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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.

rs116712279

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1180225 (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>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00004 (2/44786, ALFA)
A=0.03008 (504/16758, 8.3KJPN)
A=0.00023 (3/12940, GO-ESP) (+ 6 more)
A=0.0066 (33/5008, 1000G)
A=0.0227 (66/2910, KOREAN)
A=0.0237 (43/1816, Korea1K)
A=0.034 (21/616, Vietnamese)
G=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TTLL10 : Missense Variant
TTLL10-AS1 : 2KB Upstream 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.1180225G>A
GRCh38.p13 chr 1 NC_000001.11:g.1180225G>C
GRCh38.p13 chr 1 NC_000001.11:g.1180225G>T
GRCh37.p13 chr 1 NC_000001.10:g.1115605G>A
GRCh37.p13 chr 1 NC_000001.10:g.1115605G>C
GRCh37.p13 chr 1 NC_000001.10:g.1115605G>T
Gene: TTLL10, tubulin tyrosine ligase like 10 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TTLL10 transcript variant 2 NM_153254.3:c.172G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Ala58Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant 2 NM_153254.3:c.172G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Ala58Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant 2 NM_153254.3:c.172G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Ala58Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant 1 NM_001130045.2:c.391G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Ala131Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant 1 NM_001130045.2:c.391G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Ala131Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant 1 NM_001130045.2:c.391G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Ala131Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant 3 NM_001371649.1:c.391G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Ala131Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant 3 NM_001371649.1:c.391G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Ala131Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant 3 NM_001371649.1:c.391G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Ala131Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant X10 XM_005244738.1:c.172G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Ala58Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant X10 XM_005244738.1:c.172G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Ala58Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant X10 XM_005244738.1:c.172G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Ala58Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant X1 XM_017000906.1:c.310G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Ala104Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant X1 XM_017000906.1:c.310G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Ala104Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant X1 XM_017000906.1:c.310G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Ala104Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant X2 XM_017000907.1:c.391G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Ala131Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant X2 XM_017000907.1:c.391G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Ala131Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant X2 XM_017000907.1:c.391G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Ala131Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant X3 XM_017000908.1:c.391G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Ala131Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant X3 XM_017000908.1:c.391G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Ala131Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant X3 XM_017000908.1:c.391G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Ala131Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant X4 XM_017000909.1:c.391G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Ala131Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant X4 XM_017000909.1:c.391G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Ala131Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant X4 XM_017000909.1:c.391G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Ala131Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant X6 XM_017000911.1:c.391G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Ala131Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant X6 XM_017000911.1:c.391G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Ala131Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant X6 XM_017000911.1:c.391G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Ala131Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant X7 XM_011541177.2:c.391G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Ala131Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant X7 XM_011541177.2:c.391G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Ala131Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant X7 XM_011541177.2:c.391G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Ala131Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant X8 XM_017000912.1:c.391G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Ala131Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant X8 XM_017000912.1:c.391G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Ala131Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant X8 XM_017000912.1:c.391G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Ala131Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant X5 XM_017000910.2:c.391G>A A [GCC] > T [ACC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Ala131Thr A (Ala) > T (Thr) Missense Variant
TTLL10 transcript variant X5 XM_017000910.2:c.391G>C A [GCC] > P [CCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Ala131Pro A (Ala) > P (Pro) Missense Variant
TTLL10 transcript variant X5 XM_017000910.2:c.391G>T A [GCC] > S [TCC] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Ala131Ser A (Ala) > S (Ser) Missense Variant
TTLL10 transcript variant X9 XR_001737088.1:n.701G>A N/A Non Coding Transcript Variant
TTLL10 transcript variant X9 XR_001737088.1:n.701G>C N/A Non Coding Transcript Variant
TTLL10 transcript variant X9 XR_001737088.1:n.701G>T N/A Non Coding Transcript Variant
TTLL10 transcript variant X11 XR_001737089.1:n.1091G>A N/A Non Coding Transcript Variant
TTLL10 transcript variant X11 XR_001737089.1:n.1091G>C N/A Non Coding Transcript Variant
TTLL10 transcript variant X11 XR_001737089.1:n.1091G>T N/A Non Coding Transcript Variant
Gene: TTLL10-AS1, uncharacterized TTLL10-AS1 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
TTLL10-AS1 transcript variant X2 XR_132470.6:n. N/A Upstream Transcript Variant
TTLL10-AS1 transcript variant X1 XR_946813.2:n. N/A Upstream 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 44786 G=0.99996 A=0.00004, C=0.00000
European Sub 32782 G=1.00000 A=0.00000, C=0.00000
African Sub 3560 G=1.0000 A=0.0000, C=0.0000
African Others Sub 122 G=1.000 A=0.000, C=0.000
African American Sub 3438 G=1.0000 A=0.0000, C=0.0000
Asian Sub 166 G=1.000 A=0.000, C=0.000
East Asian Sub 110 G=1.000 A=0.000, C=0.000
Other Asian Sub 56 G=1.00 A=0.00, C=0.00
Latin American 1 Sub 500 G=1.000 A=0.000, C=0.000
Latin American 2 Sub 628 G=1.000 A=0.000, C=0.000
South Asian Sub 98 G=1.00 A=0.00, C=0.00
Other Sub 7052 G=0.9997 A=0.0003, C=0.0000


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").

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Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 44786 G=0.99996 A=0.00004, C=0.00000
Allele Frequency Aggregator European Sub 32782 G=1.00000 A=0.00000, C=0.00000
Allele Frequency Aggregator Other Sub 7052 G=0.9997 A=0.0003, C=0.0000
Allele Frequency Aggregator African Sub 3560 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 166 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, C=0.00
8.3KJPN JAPANESE Study-wide 16758 G=0.96992 A=0.03008
GO Exome Sequencing Project Global Study-wide 12940 G=0.99977 A=0.00023
GO Exome Sequencing Project European American Sub 8574 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4366 G=0.9993 A=0.0007
1000Genomes Global Study-wide 5008 G=0.9934 A=0.0066
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9683 A=0.0317
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=0.999 A=0.001
1000Genomes American Sub 694 G=1.000 A=0.000
KOREAN population from KRGDB KOREAN Study-wide 2910 G=0.9773 A=0.0227
Korean Genome Project KOREAN Study-wide 1816 G=0.9763 A=0.0237
A Vietnamese Genetic Variation Database Global Study-wide 616 G=0.966 A=0.034
SGDP_PRJ Global Study-wide 2 G=0.5 A=0.5
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 C T
GRCh38.p13 chr 1 NC_000001.11:g.1180225= NC_000001.11:g.1180225G>A NC_000001.11:g.1180225G>C NC_000001.11:g.1180225G>T
GRCh37.p13 chr 1 NC_000001.10:g.1115605= NC_000001.10:g.1115605G>A NC_000001.10:g.1115605G>C NC_000001.10:g.1115605G>T
TTLL10 transcript variant 2 NM_153254.3:c.172= NM_153254.3:c.172G>A NM_153254.3:c.172G>C NM_153254.3:c.172G>T
TTLL10 transcript variant 2 NM_153254.2:c.172= NM_153254.2:c.172G>A NM_153254.2:c.172G>C NM_153254.2:c.172G>T
TTLL10 transcript variant X7 XM_011541177.2:c.391= XM_011541177.2:c.391G>A XM_011541177.2:c.391G>C XM_011541177.2:c.391G>T
TTLL10 transcript variant 1 NM_001130045.2:c.391= NM_001130045.2:c.391G>A NM_001130045.2:c.391G>C NM_001130045.2:c.391G>T
TTLL10 transcript variant 1 NM_001130045.1:c.391= NM_001130045.1:c.391G>A NM_001130045.1:c.391G>C NM_001130045.1:c.391G>T
TTLL10 transcript variant X5 XM_017000910.2:c.391= XM_017000910.2:c.391G>A XM_017000910.2:c.391G>C XM_017000910.2:c.391G>T
TTLL10 transcript variant X1 XM_017000906.1:c.310= XM_017000906.1:c.310G>A XM_017000906.1:c.310G>C XM_017000906.1:c.310G>T
TTLL10 transcript variant 3 NM_001371649.1:c.391= NM_001371649.1:c.391G>A NM_001371649.1:c.391G>C NM_001371649.1:c.391G>T
TTLL10 transcript variant X8 XM_017000912.1:c.391= XM_017000912.1:c.391G>A XM_017000912.1:c.391G>C XM_017000912.1:c.391G>T
TTLL10 transcript variant X4 XM_017000909.1:c.391= XM_017000909.1:c.391G>A XM_017000909.1:c.391G>C XM_017000909.1:c.391G>T
TTLL10 transcript variant X10 XM_005244738.1:c.172= XM_005244738.1:c.172G>A XM_005244738.1:c.172G>C XM_005244738.1:c.172G>T
TTLL10 transcript variant X9 XR_001737088.1:n.701= XR_001737088.1:n.701G>A XR_001737088.1:n.701G>C XR_001737088.1:n.701G>T
TTLL10 transcript variant X3 XM_017000908.1:c.391= XM_017000908.1:c.391G>A XM_017000908.1:c.391G>C XM_017000908.1:c.391G>T
TTLL10 transcript variant X2 XM_017000907.1:c.391= XM_017000907.1:c.391G>A XM_017000907.1:c.391G>C XM_017000907.1:c.391G>T
TTLL10 transcript variant X6 XM_017000911.1:c.391= XM_017000911.1:c.391G>A XM_017000911.1:c.391G>C XM_017000911.1:c.391G>T
TTLL10 transcript variant X11 XR_001737089.1:n.1091= XR_001737089.1:n.1091G>A XR_001737089.1:n.1091G>C XR_001737089.1:n.1091G>T
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Ala58= NP_694986.2:p.Ala58Thr NP_694986.2:p.Ala58Pro NP_694986.2:p.Ala58Ser
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Ala131= XP_011539479.1:p.Ala131Thr XP_011539479.1:p.Ala131Pro XP_011539479.1:p.Ala131Ser
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Ala131= NP_001123517.1:p.Ala131Thr NP_001123517.1:p.Ala131Pro NP_001123517.1:p.Ala131Ser
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Ala131= XP_016856399.1:p.Ala131Thr XP_016856399.1:p.Ala131Pro XP_016856399.1:p.Ala131Ser
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Ala104= XP_016856395.1:p.Ala104Thr XP_016856395.1:p.Ala104Pro XP_016856395.1:p.Ala104Ser
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Ala131= NP_001358578.1:p.Ala131Thr NP_001358578.1:p.Ala131Pro NP_001358578.1:p.Ala131Ser
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Ala131= XP_016856401.1:p.Ala131Thr XP_016856401.1:p.Ala131Pro XP_016856401.1:p.Ala131Ser
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Ala131= XP_016856398.1:p.Ala131Thr XP_016856398.1:p.Ala131Pro XP_016856398.1:p.Ala131Ser
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Ala58= XP_005244795.1:p.Ala58Thr XP_005244795.1:p.Ala58Pro XP_005244795.1:p.Ala58Ser
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Ala131= XP_016856397.1:p.Ala131Thr XP_016856397.1:p.Ala131Pro XP_016856397.1:p.Ala131Ser
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Ala131= XP_016856396.1:p.Ala131Thr XP_016856396.1:p.Ala131Pro XP_016856396.1:p.Ala131Ser
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Ala131= XP_016856400.1:p.Ala131Thr XP_016856400.1:p.Ala131Pro XP_016856400.1:p.Ala131Ser
Help

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#.

30 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss217390801 Jul 14, 2010 (132)
2 1000GENOMES ss217392043 Jul 14, 2010 (132)
3 1000GENOMES ss238116126 Jul 15, 2010 (132)
4 1000GENOMES ss489714594 May 04, 2012 (137)
5 EXOME_CHIP ss491284058 May 04, 2012 (137)
6 ILLUMINA ss534940702 Sep 08, 2015 (146)
7 SSMP ss647518875 Apr 25, 2013 (138)
8 NHLBI-ESP ss712261363 Apr 25, 2013 (138)
9 1000GENOMES ss1289352918 Aug 21, 2014 (142)
10 EVA_EXAC ss1685225680 Apr 01, 2015 (144)
11 EVA_EXAC ss1685225681 Apr 01, 2015 (144)
12 HUMAN_LONGEVITY ss2159391498 Dec 20, 2016 (150)
13 TOPMED ss2321530721 Dec 20, 2016 (150)
14 GRF ss2697377860 Nov 08, 2017 (151)
15 GNOMAD ss2730999827 Nov 08, 2017 (151)
16 GNOMAD ss2746174204 Nov 08, 2017 (151)
17 GNOMAD ss2750679140 Nov 08, 2017 (151)
18 TOPMED ss3066487801 Nov 08, 2017 (151)
19 ILLUMINA ss3626007201 Oct 11, 2018 (152)
20 EVA_DECODE ss3685999329 Jul 12, 2019 (153)
21 EVA ss3745725070 Jul 12, 2019 (153)
22 KHV_HUMAN_GENOMES ss3798747721 Jul 12, 2019 (153)
23 EVA ss3823543033 Apr 25, 2020 (154)
24 SGDP_PRJ ss3848005821 Apr 25, 2020 (154)
25 KRGDB ss3892848787 Apr 25, 2020 (154)
26 KOGIC ss3943637760 Apr 25, 2020 (154)
27 TOPMED ss4436539271 Apr 25, 2021 (155)
28 TOPMED ss4436539272 Apr 25, 2021 (155)
29 TOMMO_GENOMICS ss5142070040 Apr 25, 2021 (155)
30 EVA ss5236862461 Apr 25, 2021 (155)
31 1000Genomes NC_000001.10 - 1115605 Oct 11, 2018 (152)
32 ExAC

Submission ignored due to conflicting rows:
Row 4399334 (NC_000001.10:1115604:G:G 78117/78338, NC_000001.10:1115604:G:A 221/78338)
Row 4399335 (NC_000001.10:1115604:G:G 78336/78338, NC_000001.10:1115604:G:T 2/78338)

- Oct 11, 2018 (152)
33 ExAC

Submission ignored due to conflicting rows:
Row 4399334 (NC_000001.10:1115604:G:G 78117/78338, NC_000001.10:1115604:G:A 221/78338)
Row 4399335 (NC_000001.10:1115604:G:G 78336/78338, NC_000001.10:1115604:G:T 2/78338)

- Oct 11, 2018 (152)
34 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 158761 (NC_000001.11:1180224:G:A 94/140212)
Row 158762 (NC_000001.11:1180224:G:C 1/140212)

- Apr 25, 2021 (155)
35 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 158761 (NC_000001.11:1180224:G:A 94/140212)
Row 158762 (NC_000001.11:1180224:G:C 1/140212)

- Apr 25, 2021 (155)
36 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14657 (NC_000001.10:1115604:G:G 230792/231286, NC_000001.10:1115604:G:A 494/231286)
Row 14658 (NC_000001.10:1115604:G:G 231284/231286, NC_000001.10:1115604:G:T 2/231286)

- Jul 12, 2019 (153)
37 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14657 (NC_000001.10:1115604:G:G 230792/231286, NC_000001.10:1115604:G:A 494/231286)
Row 14658 (NC_000001.10:1115604:G:G 231284/231286, NC_000001.10:1115604:G:T 2/231286)

- Jul 12, 2019 (153)
38 GO Exome Sequencing Project NC_000001.10 - 1115605 Oct 11, 2018 (152)
39 KOREAN population from KRGDB NC_000001.10 - 1115605 Apr 25, 2020 (154)
40 Korean Genome Project NC_000001.11 - 1180225 Apr 25, 2020 (154)
41 SGDP_PRJ NC_000001.10 - 1115605 Apr 25, 2020 (154)
42 8.3KJPN NC_000001.10 - 1115605 Apr 25, 2021 (155)
43 TopMed

Submission ignored due to conflicting rows:
Row 145606 (NC_000001.11:1180224:G:A 259/264690)
Row 145607 (NC_000001.11:1180224:G:C 2/264690)

- Apr 25, 2021 (155)
44 TopMed

Submission ignored due to conflicting rows:
Row 145606 (NC_000001.11:1180224:G:A 259/264690)
Row 145607 (NC_000001.11:1180224:G:C 2/264690)

- Apr 25, 2021 (155)
45 A Vietnamese Genetic Variation Database NC_000001.10 - 1115605 Jul 12, 2019 (153)
46 ALFA NC_000001.11 - 1180225 Apr 25, 2021 (155)
Help

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).

Associated ID History Updated (Build)
rs117476134 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss217390801, ss217392043 NC_000001.9:1105467:G:A NC_000001.11:1180224:G:A (self)
18103, 1770, 26181, 22801, 39347, 1361, ss238116126, ss489714594, ss491284058, ss534940702, ss647518875, ss712261363, ss1289352918, ss1685225680, ss2321530721, ss2697377860, ss2730999827, ss2746174204, ss2750679140, ss3626007201, ss3745725070, ss3823543033, ss3848005821, ss3892848787, ss5142070040 NC_000001.10:1115604:G:A NC_000001.11:1180224:G:A (self)
15761, 83550, 119758985, ss2159391498, ss3066487801, ss3685999329, ss3798747721, ss3943637760, ss4436539271, ss5236862461 NC_000001.11:1180224:G:A NC_000001.11:1180224:G:A (self)
ss2746174204, ss2750679140 NC_000001.10:1115604:G:C NC_000001.11:1180224:G:C (self)
119758985, ss4436539272 NC_000001.11:1180224:G:C NC_000001.11:1180224:G:C
ss1685225681, ss2730999827 NC_000001.10:1115604:G:T NC_000001.11:1180224:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs116712279

Help

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