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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs116221912

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17664536 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000008 (2/264690, TOPMED)
A=0.000025 (6/244206, GnomAD_exome)
A=0.000035 (4/115734, ExAC) (+ 2 more)
A=0.00000 (0/14050, ALFA)
A=0.0002 (1/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARHGEF10L : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 1 NC_000001.11:g.17664536G>A
GRCh38.p13 chr 1 NC_000001.11:g.17664536G>T
GRCh37.p13 chr 1 NC_000001.10:g.17991031G>A
GRCh37.p13 chr 1 NC_000001.10:g.17991031G>T
ARHGEF10L RefSeqGene NG_050860.1:g.149340G>A
ARHGEF10L RefSeqGene NG_050860.1:g.149340G>T
Gene: ARHGEF10L, Rho guanine nucleotide exchange factor 10 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ARHGEF10L transcript variant 2 NM_001011722.2:c.2833G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Val945Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant 2 NM_001011722.2:c.2833G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Val945Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.2818G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Val940Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant 3 NM_001319837.1:c.2818G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Val940Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant 4 NM_001319838.1:c.2059G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Val687Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant 4 NM_001319838.1:c.2059G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Val687Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c.2284G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Val762Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant 5 NM_001328124.1:c.2284G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Val762Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.2950G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Val984Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant 1 NM_018125.4:c.2950G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Val984Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.3993G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 6 NR_137287.2:n.3993G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.3873G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant 7 NR_137288.2:n.3873G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.2845G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Val949Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X2 XM_005245923.2:c.2845G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Val949Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.2845G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Val949Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X1 XM_006710728.1:c.2845G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Val949Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.2842G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Val948Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X7 XM_006710729.1:c.2842G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Val948Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.2842G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Val948Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X6 XM_006710731.1:c.2842G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Val948Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.2833G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Val945Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X9 XM_005245925.2:c.2833G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Val945Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.2836G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Val946Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X8 XM_011541691.2:c.2836G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Val946Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.2830G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Val944Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X10 XM_011541692.2:c.2830G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Val944Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.2821G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Val941Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X11 XM_011541693.2:c.2821G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Val941Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.2818G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Val940Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X12 XM_017001617.1:c.2818G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Val940Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c.2239G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Val747Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X16 XM_017001618.1:c.2239G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Val747Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.2845G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Val949Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X17 XM_017001619.1:c.2845G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Val949Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.2830G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Val944Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X18 XM_017001620.1:c.2830G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Val944Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.2950G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Val984Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X26 XM_017001621.1:c.2950G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Val984Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.2935G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Val979Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X27 XM_017001622.1:c.2935G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Val979Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.2845G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Val949Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X3 XM_024448059.1:c.2845G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Val949Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.2845G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Val949Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X4 XM_024448061.1:c.2845G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Val949Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.2845G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Val949Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X5 XM_024448062.1:c.2845G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Val949Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c.2269G>A V [GTG] > M [ATG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Val757Met V (Val) > M (Met) Missense Variant
ARHGEF10L transcript variant X15 XM_005245929.3:c.2269G>T V [GTG] > L [TTG] Coding Sequence Variant
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Val757Leu V (Val) > L (Leu) Missense Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.2975G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X14 XR_001737276.1:n.2975G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.2852G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X19 XR_001737277.1:n.2852G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.2974G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X13 XR_946686.3:n.2974G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.3596G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X23 XR_002956988.1:n.3596G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.3581G>A N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X25 XR_002956989.1:n.3581G>T N/A Non Coding Transcript Variant
ARHGEF10L transcript variant X20 XR_946688.2:n. N/A Genic Downstream Transcript Variant
ARHGEF10L transcript variant X21 XR_946689.2:n. N/A Genic Downstream Transcript Variant
ARHGEF10L transcript variant X22 XR_946690.2:n. N/A Genic Downstream Transcript Variant
ARHGEF10L transcript variant X24 XR_946691.2:n. N/A Genic Downstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 G=1.00000 A=0.00000
European Sub 9690 G=1.0000 A=0.0000
African Sub 2898 G=1.0000 A=0.0000
African Others Sub 114 G=1.000 A=0.000
African American Sub 2784 G=1.0000 A=0.0000
Asian Sub 112 G=1.000 A=0.000
East Asian Sub 86 G=1.00 A=0.00
Other Asian Sub 26 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 98 G=1.00 A=0.00
Other Sub 496 G=1.000 A=0.000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.999992 A=0.000008
gnomAD - Exomes Global Study-wide 244206 G=0.999975 A=0.000025
gnomAD - Exomes European Sub 129522 G=0.999961 A=0.000039
gnomAD - Exomes Asian Sub 48488 G=1.00000 A=0.00000
gnomAD - Exomes American Sub 34244 G=0.99997 A=0.00003
gnomAD - Exomes African Sub 16036 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9918 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 5998 G=1.0000 A=0.0000
ExAC Global Study-wide 115734 G=0.999965 A=0.000035
ExAC Europe Sub 69980 G=0.99994 A=0.00006
ExAC Asian Sub 23930 G=1.00000 A=0.00000
ExAC American Sub 11150 G=1.00000 A=0.00000
ExAC African Sub 9858 G=1.0000 A=0.0000
ExAC Other Sub 816 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9998 A=0.0002
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9990 A=0.0010
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A T
GRCh38.p13 chr 1 NC_000001.11:g.17664536= NC_000001.11:g.17664536G>A NC_000001.11:g.17664536G>T
GRCh37.p13 chr 1 NC_000001.10:g.17991031= NC_000001.10:g.17991031G>A NC_000001.10:g.17991031G>T
ARHGEF10L RefSeqGene NG_050860.1:g.149340= NG_050860.1:g.149340G>A NG_050860.1:g.149340G>T
ARHGEF10L transcript variant 1 NM_018125.4:c.2950= NM_018125.4:c.2950G>A NM_018125.4:c.2950G>T
ARHGEF10L transcript variant 1 NM_018125.3:c.2950= NM_018125.3:c.2950G>A NM_018125.3:c.2950G>T
ARHGEF10L transcript variant 6 NR_137287.2:n.3993= NR_137287.2:n.3993G>A NR_137287.2:n.3993G>T
ARHGEF10L transcript variant 6 NR_137287.1:n.3856= NR_137287.1:n.3856G>A NR_137287.1:n.3856G>T
ARHGEF10L transcript variant 7 NR_137288.2:n.3873= NR_137288.2:n.3873G>A NR_137288.2:n.3873G>T
ARHGEF10L transcript variant 7 NR_137288.1:n.3736= NR_137288.1:n.3736G>A NR_137288.1:n.3736G>T
ARHGEF10L transcript variant 2 NM_001011722.2:c.2833= NM_001011722.2:c.2833G>A NM_001011722.2:c.2833G>T
ARHGEF10L transcript variant 3 NM_001319837.1:c.2818= NM_001319837.1:c.2818G>A NM_001319837.1:c.2818G>T
ARHGEF10L transcript variant 5 NM_001328124.1:c.2284= NM_001328124.1:c.2284G>A NM_001328124.1:c.2284G>T
ARHGEF10L transcript variant 4 NM_001319838.1:c.2059= NM_001319838.1:c.2059G>A NM_001319838.1:c.2059G>T
ARHGEF10L transcript variant X15 XM_005245929.3:c.2269= XM_005245929.3:c.2269G>A XM_005245929.3:c.2269G>T
ARHGEF10L transcript variant X9 XM_005245929.1:c.2269= XM_005245929.1:c.2269G>A XM_005245929.1:c.2269G>T
ARHGEF10L transcript variant X13 XR_946686.3:n.2974= XR_946686.3:n.2974G>A XR_946686.3:n.2974G>T
ARHGEF10L transcript variant X2 XM_005245923.2:c.2845= XM_005245923.2:c.2845G>A XM_005245923.2:c.2845G>T
ARHGEF10L transcript variant X3 XM_005245923.1:c.2845= XM_005245923.1:c.2845G>A XM_005245923.1:c.2845G>T
ARHGEF10L transcript variant X8 XM_011541691.2:c.2836= XM_011541691.2:c.2836G>A XM_011541691.2:c.2836G>T
ARHGEF10L transcript variant X10 XM_011541692.2:c.2830= XM_011541692.2:c.2830G>A XM_011541692.2:c.2830G>T
ARHGEF10L transcript variant X9 XM_005245925.2:c.2833= XM_005245925.2:c.2833G>A XM_005245925.2:c.2833G>T
ARHGEF10L transcript variant X5 XM_005245925.1:c.2833= XM_005245925.1:c.2833G>A XM_005245925.1:c.2833G>T
ARHGEF10L transcript variant X11 XM_011541693.2:c.2821= XM_011541693.2:c.2821G>A XM_011541693.2:c.2821G>T
ARHGEF10L transcript variant X17 XM_017001619.1:c.2845= XM_017001619.1:c.2845G>A XM_017001619.1:c.2845G>T
ARHGEF10L transcript variant X18 XM_017001620.1:c.2830= XM_017001620.1:c.2830G>A XM_017001620.1:c.2830G>T
ARHGEF10L transcript variant X23 XR_002956988.1:n.3596= XR_002956988.1:n.3596G>A XR_002956988.1:n.3596G>T
ARHGEF10L transcript variant X25 XR_002956989.1:n.3581= XR_002956989.1:n.3581G>A XR_002956989.1:n.3581G>T
ARHGEF10L transcript variant X1 XM_006710728.1:c.2845= XM_006710728.1:c.2845G>A XM_006710728.1:c.2845G>T
ARHGEF10L transcript variant X6 XM_006710731.1:c.2842= XM_006710731.1:c.2842G>A XM_006710731.1:c.2842G>T
ARHGEF10L transcript variant X26 XM_017001621.1:c.2950= XM_017001621.1:c.2950G>A XM_017001621.1:c.2950G>T
ARHGEF10L transcript variant X27 XM_017001622.1:c.2935= XM_017001622.1:c.2935G>A XM_017001622.1:c.2935G>T
ARHGEF10L transcript variant X3 XM_024448059.1:c.2845= XM_024448059.1:c.2845G>A XM_024448059.1:c.2845G>T
ARHGEF10L transcript variant X4 XM_024448061.1:c.2845= XM_024448061.1:c.2845G>A XM_024448061.1:c.2845G>T
ARHGEF10L transcript variant X7 XM_006710729.1:c.2842= XM_006710729.1:c.2842G>A XM_006710729.1:c.2842G>T
ARHGEF10L transcript variant X12 XM_017001617.1:c.2818= XM_017001617.1:c.2818G>A XM_017001617.1:c.2818G>T
ARHGEF10L transcript variant X5 XM_024448062.1:c.2845= XM_024448062.1:c.2845G>A XM_024448062.1:c.2845G>T
ARHGEF10L transcript variant X19 XR_001737277.1:n.2852= XR_001737277.1:n.2852G>A XR_001737277.1:n.2852G>T
ARHGEF10L transcript variant X14 XR_001737276.1:n.2975= XR_001737276.1:n.2975G>A XR_001737276.1:n.2975G>T
ARHGEF10L transcript variant X16 XM_017001618.1:c.2239= XM_017001618.1:c.2239G>A XM_017001618.1:c.2239G>T
rho guanine nucleotide exchange factor 10-like protein isoform 1 NP_060595.3:p.Val984= NP_060595.3:p.Val984Met NP_060595.3:p.Val984Leu
rho guanine nucleotide exchange factor 10-like protein isoform 2 NP_001011722.2:p.Val945= NP_001011722.2:p.Val945Met NP_001011722.2:p.Val945Leu
rho guanine nucleotide exchange factor 10-like protein isoform 3 NP_001306766.1:p.Val940= NP_001306766.1:p.Val940Met NP_001306766.1:p.Val940Leu
rho guanine nucleotide exchange factor 10-like protein isoform 5 NP_001315053.1:p.Val762= NP_001315053.1:p.Val762Met NP_001315053.1:p.Val762Leu
rho guanine nucleotide exchange factor 10-like protein isoform 4 NP_001306767.1:p.Val687= NP_001306767.1:p.Val687Met NP_001306767.1:p.Val687Leu
rho guanine nucleotide exchange factor 10-like protein isoform X8 XP_005245986.2:p.Val757= XP_005245986.2:p.Val757Met XP_005245986.2:p.Val757Leu
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_005245980.2:p.Val949= XP_005245980.2:p.Val949Met XP_005245980.2:p.Val949Leu
rho guanine nucleotide exchange factor 10-like protein isoform X3 XP_011539993.1:p.Val946= XP_011539993.1:p.Val946Met XP_011539993.1:p.Val946Leu
rho guanine nucleotide exchange factor 10-like protein isoform X5 XP_011539994.1:p.Val944= XP_011539994.1:p.Val944Met XP_011539994.1:p.Val944Leu
rho guanine nucleotide exchange factor 10-like protein isoform X4 XP_005245982.2:p.Val945= XP_005245982.2:p.Val945Met XP_005245982.2:p.Val945Leu
rho guanine nucleotide exchange factor 10-like protein isoform X6 XP_011539995.1:p.Val941= XP_011539995.1:p.Val941Met XP_011539995.1:p.Val941Leu
rho guanine nucleotide exchange factor 10-like protein isoform X10 XP_016857108.1:p.Val949= XP_016857108.1:p.Val949Met XP_016857108.1:p.Val949Leu
rho guanine nucleotide exchange factor 10-like protein isoform X11 XP_016857109.1:p.Val944= XP_016857109.1:p.Val944Met XP_016857109.1:p.Val944Leu
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_006710791.1:p.Val949= XP_006710791.1:p.Val949Met XP_006710791.1:p.Val949Leu
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710794.1:p.Val948= XP_006710794.1:p.Val948Met XP_006710794.1:p.Val948Leu
rho guanine nucleotide exchange factor 10-like protein isoform X12 XP_016857110.1:p.Val984= XP_016857110.1:p.Val984Met XP_016857110.1:p.Val984Leu
rho guanine nucleotide exchange factor 10-like protein isoform X13 XP_016857111.1:p.Val979= XP_016857111.1:p.Val979Met XP_016857111.1:p.Val979Leu
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303827.1:p.Val949= XP_024303827.1:p.Val949Met XP_024303827.1:p.Val949Leu
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303829.1:p.Val949= XP_024303829.1:p.Val949Met XP_024303829.1:p.Val949Leu
rho guanine nucleotide exchange factor 10-like protein isoform X2 XP_006710792.1:p.Val948= XP_006710792.1:p.Val948Met XP_006710792.1:p.Val948Leu
rho guanine nucleotide exchange factor 10-like protein isoform X7 XP_016857106.1:p.Val940= XP_016857106.1:p.Val940Met XP_016857106.1:p.Val940Leu
rho guanine nucleotide exchange factor 10-like protein isoform X1 XP_024303830.1:p.Val949= XP_024303830.1:p.Val949Met XP_024303830.1:p.Val949Leu
rho guanine nucleotide exchange factor 10-like protein isoform X9 XP_016857107.1:p.Val747= XP_016857107.1:p.Val747Met XP_016857107.1:p.Val747Leu
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X3 XP_005245980.1:p.Val949= XP_005245980.1:p.Val949Met XP_005245980.1:p.Val949Leu
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X5 XP_005245982.1:p.Val945= XP_005245982.1:p.Val945Met XP_005245982.1:p.Val945Leu
Rho guanine nucleotide exchange factor (GEF) 10-like isoform X9 XP_005245986.1:p.Val757= XP_005245986.1:p.Val757Met XP_005245986.1:p.Val757Leu
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Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

8 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss217410553 Jul 14, 2010 (132)
2 1000GENOMES ss1289867485 Aug 21, 2014 (142)
3 EVA_EXAC ss1685351436 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2160382237 Dec 20, 2016 (150)
5 TOPMED ss2322562913 Dec 20, 2016 (150)
6 GNOMAD ss2731192971 Nov 08, 2017 (151)
7 TOPMED ss3069856655 Nov 08, 2017 (151)
8 TOPMED ss4440717939 Apr 27, 2021 (155)
9 1000Genomes NC_000001.10 - 17991031 Oct 11, 2018 (152)
10 ExAC NC_000001.10 - 17991031 Oct 11, 2018 (152)
11 gnomAD - Exomes NC_000001.10 - 17991031 Jul 12, 2019 (153)
12 TopMed NC_000001.11 - 17664536 Apr 27, 2021 (155)
13 ALFA NC_000001.11 - 17664536 Apr 27, 2021 (155)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss217410553 NC_000001.9:17863617:G:A NC_000001.11:17664535:G:A (self)
549969, 4534032, 205532, ss1289867485, ss1685351436, ss2322562913, ss2731192971 NC_000001.10:17991030:G:A NC_000001.11:17664535:G:A (self)
2714682, 4324274, 12959949922, ss2160382237, ss3069856655, ss4440717939 NC_000001.11:17664535:G:A NC_000001.11:17664535:G:A (self)
ss2731192971 NC_000001.10:17991030:G:T NC_000001.11:17664535:G:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs116221912

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad