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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.

rs4997150

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:149030356 (GRCh38.p14) 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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.00096 (27/28256, 14KJPN)
C=0.49761 (8340/16760, 8.3KJPN)
C=0.13679 (2234/16332, ALFA) (+ 7 more)
C=0.4997 (1464/2930, KOREAN)
T=0.500 (279/558, SGDP_PRJ)
C=0.500 (279/558, SGDP_PRJ)
T=0.500 (108/216, Qatari)
C=0.500 (108/216, Qatari)
T=0.50 (26/52, Siberian)
C=0.50 (26/52, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PDE4DIP : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 16332 T=0.86321 C=0.13679
European Sub 12080 T=0.81548 C=0.18452
African Sub 2816 T=1.0000 C=0.0000
African Others Sub 108 T=1.000 C=0.000
African American Sub 2708 T=1.0000 C=0.0000
Asian Sub 108 T=1.000 C=0.000
East Asian Sub 84 T=1.00 C=0.00
Other Asian Sub 24 T=1.00 C=0.00
Latin American 1 Sub 146 T=0.993 C=0.007
Latin American 2 Sub 610 T=1.000 C=0.000
South Asian Sub 94 T=1.00 C=0.00
Other Sub 478 T=0.992 C=0.008


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
14KJPN JAPANESE Study-wide 28256 T=0.99904 C=0.00096
8.3KJPN JAPANESE Study-wide 16760 T=0.50239 C=0.49761
Allele Frequency Aggregator Total Global 16332 T=0.86321 C=0.13679
Allele Frequency Aggregator European Sub 12080 T=0.81548 C=0.18452
Allele Frequency Aggregator African Sub 2816 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000
Allele Frequency Aggregator Other Sub 478 T=0.992 C=0.008
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.993 C=0.007
Allele Frequency Aggregator Asian Sub 108 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 94 T=1.00 C=0.00
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5003 C=0.4997
SGDP_PRJ Global Study-wide 558 T=0.500 C=0.500
Qatari Global Study-wide 216 T=0.500 C=0.500
Siberian Global Study-wide 52 T=0.50 C=0.50
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.p14 chr 1 NC_000001.11:g.149030356T>C
GRCh37.p13 chr 1 fix patch HG1287_PATCH NW_003871055.3:g.5845769T>C
PDE4DIP RefSeqGene NG_027693.2:g.227181T>C
GRCh37.p13 chr 1 NC_000001.10:g.144854087A>G
Gene: PDE4DIP, phosphodiesterase 4D interacting protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PDE4DIP transcript variant 8 NM_001198832.4:c.6681+78T…

NM_001198832.4:c.6681+78T>C

N/A Intron Variant
PDE4DIP transcript variant 9 NM_001198834.5:c.6999+78T…

NM_001198834.5:c.6999+78T>C

N/A Intron Variant
PDE4DIP transcript variant 10 NM_001350520.2:c.7485+78T…

NM_001350520.2:c.7485+78T>C

N/A Intron Variant
PDE4DIP transcript variant 11 NM_001350521.4:c.7293+78T…

NM_001350521.4:c.7293+78T>C

N/A Intron Variant
PDE4DIP transcript variant 12 NM_001350522.3:c.6840+78T…

NM_001350522.3:c.6840+78T>C

N/A Intron Variant
PDE4DIP transcript variant 13 NM_001350523.3:c.6678+78T…

NM_001350523.3:c.6678+78T>C

N/A Intron Variant
PDE4DIP transcript variant 14 NM_001377392.2:c.7410+78T…

NM_001377392.2:c.7410+78T>C

N/A Intron Variant
PDE4DIP transcript variant 15 NM_001377393.2:c.6867+78T…

NM_001377393.2:c.6867+78T>C

N/A Intron Variant
PDE4DIP transcript variant 16 NM_001395297.1:c.7488+78T…

NM_001395297.1:c.7488+78T>C

N/A Intron Variant
PDE4DIP transcript variant 17 NM_001395298.1:c.7407+78T…

NM_001395298.1:c.7407+78T>C

N/A Intron Variant
PDE4DIP transcript variant 18 NM_001395299.1:c.7299+78T…

NM_001395299.1:c.7299+78T>C

N/A Intron Variant
PDE4DIP transcript variant 19 NM_001395300.1:c.7299+78T…

NM_001395300.1:c.7299+78T>C

N/A Intron Variant
PDE4DIP transcript variant 20 NM_001395301.1:c.7245+78T…

NM_001395301.1:c.7245+78T>C

N/A Intron Variant
PDE4DIP transcript variant 21 NM_001395302.1:c.7059+78T…

NM_001395302.1:c.7059+78T>C

N/A Intron Variant
PDE4DIP transcript variant 22 NM_001395303.1:c.7077+78T…

NM_001395303.1:c.7077+78T>C

N/A Intron Variant
PDE4DIP transcript variant 23 NM_001395304.1:c.7011+78T…

NM_001395304.1:c.7011+78T>C

N/A Intron Variant
PDE4DIP transcript variant 24 NM_001395305.1:c.7011+78T…

NM_001395305.1:c.7011+78T>C

N/A Intron Variant
PDE4DIP transcript variant 25 NM_001395306.1:c.6867+78T…

NM_001395306.1:c.6867+78T>C

N/A Intron Variant
PDE4DIP transcript variant 26 NM_001395307.1:c.6837+78T…

NM_001395307.1:c.6837+78T>C

N/A Intron Variant
PDE4DIP transcript variant 27 NM_001395308.1:c.6768+78T…

NM_001395308.1:c.6768+78T>C

N/A Intron Variant
PDE4DIP transcript variant 28 NM_001395309.1:c.6816+78T…

NM_001395309.1:c.6816+78T>C

N/A Intron Variant
PDE4DIP transcript variant 29 NM_001395310.1:c.6771+78T…

NM_001395310.1:c.6771+78T>C

N/A Intron Variant
PDE4DIP transcript variant 30 NM_001395311.1:c.6681+78T…

NM_001395311.1:c.6681+78T>C

N/A Intron Variant
PDE4DIP transcript variant 31 NM_001395312.1:c.6678+78T…

NM_001395312.1:c.6678+78T>C

N/A Intron Variant
PDE4DIP transcript variant 32 NM_001395313.1:c.6660+78T…

NM_001395313.1:c.6660+78T>C

N/A Intron Variant
PDE4DIP transcript variant 33 NM_001395314.1:c.6438+78T…

NM_001395314.1:c.6438+78T>C

N/A Intron Variant
PDE4DIP transcript variant 49 NM_001395426.1:c.7197+78T…

NM_001395426.1:c.7197+78T>C

N/A Intron Variant
PDE4DIP transcript variant 1 NM_014644.7:c.6999+78T>C N/A Intron Variant
PDE4DIP transcript variant 4 NM_001002810.5:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 5 NM_001002811.3:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 2 NM_001002812.4:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 6 NM_001195260.2:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 7 NM_001195261.2:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 34 NM_001395315.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 35 NM_001395316.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 36 NM_001395317.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 37 NM_001395318.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 38 NM_001395319.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 39 NM_001395320.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 40 NM_001395321.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 41 NM_001395322.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 42 NM_001395323.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 43 NM_001395324.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 44 NM_001395325.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 45 NM_001395326.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 46 NM_001395327.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 47 NM_001395328.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 48 NM_001395329.1:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant 3 NM_022359.8:c. N/A Genic Downstream Transcript Variant
PDE4DIP transcript variant X1 XM_005272981.4:c.7488+78T…

XM_005272981.4:c.7488+78T>C

N/A Intron Variant
PDE4DIP transcript variant X23 XM_011510176.3:c.6894+78T…

XM_011510176.3:c.6894+78T>C

N/A Intron Variant
PDE4DIP transcript variant X2 XM_017002879.2:c.7302+78T…

XM_017002879.2:c.7302+78T>C

N/A Intron Variant
PDE4DIP transcript variant X3 XM_017002881.2:c.7302+78T…

XM_017002881.2:c.7302+78T>C

N/A Intron Variant
PDE4DIP transcript variant X4 XM_017002882.2:c.7299+78T…

XM_017002882.2:c.7299+78T>C

N/A Intron Variant
PDE4DIP transcript variant X5 XM_017002883.2:c.7248+78T…

XM_017002883.2:c.7248+78T>C

N/A Intron Variant
PDE4DIP transcript variant X7 XM_017002884.2:c.7248+78T…

XM_017002884.2:c.7248+78T>C

N/A Intron Variant
PDE4DIP transcript variant X10 XM_017002885.2:c.7158+78T…

XM_017002885.2:c.7158+78T>C

N/A Intron Variant
PDE4DIP transcript variant X11 XM_017002886.2:c.7155+78T…

XM_017002886.2:c.7155+78T>C

N/A Intron Variant
PDE4DIP transcript variant X13 XM_017002890.2:c.7062+78T…

XM_017002890.2:c.7062+78T>C

N/A Intron Variant
PDE4DIP transcript variant X15 XM_017002896.2:c.7062+78T…

XM_017002896.2:c.7062+78T>C

N/A Intron Variant
PDE4DIP transcript variant X16 XM_017002897.2:c.7059+78T…

XM_017002897.2:c.7059+78T>C

N/A Intron Variant
PDE4DIP transcript variant X25 XM_017002900.2:c.6732+78T…

XM_017002900.2:c.6732+78T>C

N/A Intron Variant
PDE4DIP transcript variant X26 XM_017002901.2:c.6732+78T…

XM_017002901.2:c.6732+78T>C

N/A Intron Variant
PDE4DIP transcript variant X22 XM_024451068.2:c.6891+78T…

XM_024451068.2:c.6891+78T>C

N/A Intron Variant
PDE4DIP transcript variant X6 XM_047435063.1:c.7224+78T…

XM_047435063.1:c.7224+78T>C

N/A Intron Variant
PDE4DIP transcript variant X8 XM_047435064.1:c.7224+78T…

XM_047435064.1:c.7224+78T>C

N/A Intron Variant
PDE4DIP transcript variant X9 XM_047435065.1:c.7170+78T…

XM_047435065.1:c.7170+78T>C

N/A Intron Variant
PDE4DIP transcript variant X12 XM_047435066.1:c.7080+78T…

XM_047435066.1:c.7080+78T>C

N/A Intron Variant
PDE4DIP transcript variant X14 XM_047435070.1:c.7080+78T…

XM_047435070.1:c.7080+78T>C

N/A Intron Variant
PDE4DIP transcript variant X17 XM_047435071.1:c.6981+78T…

XM_047435071.1:c.6981+78T>C

N/A Intron Variant
PDE4DIP transcript variant X18 XM_047435072.1:c.6972+78T…

XM_047435072.1:c.6972+78T>C

N/A Intron Variant
PDE4DIP transcript variant X19 XM_047435073.1:c.6972+78T…

XM_047435073.1:c.6972+78T>C

N/A Intron Variant
PDE4DIP transcript variant X20 XM_047435074.1:c.6969+78T…

XM_047435074.1:c.6969+78T>C

N/A Intron Variant
PDE4DIP transcript variant X21 XM_047435075.1:c.6894+78T…

XM_047435075.1:c.6894+78T>C

N/A Intron Variant
PDE4DIP transcript variant X24 XM_047435076.1:c.6891+78T…

XM_047435076.1:c.6891+78T>C

N/A Intron Variant
PDE4DIP transcript variant X27 XM_047435081.1:c.6729+78T…

XM_047435081.1:c.6729+78T>C

N/A Intron Variant
PDE4DIP transcript variant X28 XM_047435082.1:c.6441+78T…

XM_047435082.1:c.6441+78T>C

N/A Intron 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
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 T= C
GRCh38.p14 chr 1 NC_000001.11:g.149030356= NC_000001.11:g.149030356T>C
GRCh37.p13 chr 1 fix patch HG1287_PATCH NW_003871055.3:g.5845769= NW_003871055.3:g.5845769T>C
PDE4DIP RefSeqGene NG_027693.2:g.227181= NG_027693.2:g.227181T>C
GRCh37.p13 chr 1 NC_000001.10:g.144854087= NC_000001.10:g.144854087A>G
PDE4DIP transcript variant 8 NM_001198832.2:c.6681+78= NM_001198832.2:c.6681+78T>C
PDE4DIP transcript variant 8 NM_001198832.4:c.6681+78= NM_001198832.4:c.6681+78T>C
PDE4DIP transcript variant 9 NM_001198834.3:c.6999+78= NM_001198834.3:c.6999+78T>C
PDE4DIP transcript variant 9 NM_001198834.5:c.6999+78= NM_001198834.5:c.6999+78T>C
PDE4DIP transcript variant 10 NM_001350520.2:c.7485+78= NM_001350520.2:c.7485+78T>C
PDE4DIP transcript variant 11 NM_001350521.4:c.7293+78= NM_001350521.4:c.7293+78T>C
PDE4DIP transcript variant 12 NM_001350522.3:c.6840+78= NM_001350522.3:c.6840+78T>C
PDE4DIP transcript variant 13 NM_001350523.3:c.6678+78= NM_001350523.3:c.6678+78T>C
PDE4DIP transcript variant 14 NM_001377392.2:c.7410+78= NM_001377392.2:c.7410+78T>C
PDE4DIP transcript variant 15 NM_001377393.2:c.6867+78= NM_001377393.2:c.6867+78T>C
PDE4DIP transcript variant 16 NM_001395297.1:c.7488+78= NM_001395297.1:c.7488+78T>C
PDE4DIP transcript variant 17 NM_001395298.1:c.7407+78= NM_001395298.1:c.7407+78T>C
PDE4DIP transcript variant 18 NM_001395299.1:c.7299+78= NM_001395299.1:c.7299+78T>C
PDE4DIP transcript variant 19 NM_001395300.1:c.7299+78= NM_001395300.1:c.7299+78T>C
PDE4DIP transcript variant 20 NM_001395301.1:c.7245+78= NM_001395301.1:c.7245+78T>C
PDE4DIP transcript variant 21 NM_001395302.1:c.7059+78= NM_001395302.1:c.7059+78T>C
PDE4DIP transcript variant 22 NM_001395303.1:c.7077+78= NM_001395303.1:c.7077+78T>C
PDE4DIP transcript variant 23 NM_001395304.1:c.7011+78= NM_001395304.1:c.7011+78T>C
PDE4DIP transcript variant 24 NM_001395305.1:c.7011+78= NM_001395305.1:c.7011+78T>C
PDE4DIP transcript variant 25 NM_001395306.1:c.6867+78= NM_001395306.1:c.6867+78T>C
PDE4DIP transcript variant 26 NM_001395307.1:c.6837+78= NM_001395307.1:c.6837+78T>C
PDE4DIP transcript variant 27 NM_001395308.1:c.6768+78= NM_001395308.1:c.6768+78T>C
PDE4DIP transcript variant 28 NM_001395309.1:c.6816+78= NM_001395309.1:c.6816+78T>C
PDE4DIP transcript variant 29 NM_001395310.1:c.6771+78= NM_001395310.1:c.6771+78T>C
PDE4DIP transcript variant 30 NM_001395311.1:c.6681+78= NM_001395311.1:c.6681+78T>C
PDE4DIP transcript variant 31 NM_001395312.1:c.6678+78= NM_001395312.1:c.6678+78T>C
PDE4DIP transcript variant 32 NM_001395313.1:c.6660+78= NM_001395313.1:c.6660+78T>C
PDE4DIP transcript variant 33 NM_001395314.1:c.6438+78= NM_001395314.1:c.6438+78T>C
PDE4DIP transcript variant 49 NM_001395426.1:c.7197+78= NM_001395426.1:c.7197+78T>C
PDE4DIP transcript variant 1 NM_014644.5:c.6999+78= NM_014644.5:c.6999+78T>C
PDE4DIP transcript variant 1 NM_014644.7:c.6999+78= NM_014644.7:c.6999+78T>C
PDE4DIP transcript variant X1 XM_005272981.1:c.7488+78= XM_005272981.1:c.7488+78T>C
PDE4DIP transcript variant X1 XM_005272981.4:c.7488+78= XM_005272981.4:c.7488+78T>C
PDE4DIP transcript variant X2 XM_005272982.1:c.7407+78= XM_005272982.1:c.7407+78T>C
PDE4DIP transcript variant X3 XM_005272983.1:c.6945+78= XM_005272983.1:c.6945+78T>C
PDE4DIP transcript variant X4 XM_005272984.1:c.6639+78= XM_005272984.1:c.6639+78T>C
PDE4DIP transcript variant X1 XM_005277442.1:c.7488+78= XM_005277442.1:c.7488+78T>C
PDE4DIP transcript variant X2 XM_005277443.1:c.7488+78= XM_005277443.1:c.7488+78T>C
PDE4DIP transcript variant X3 XM_005277444.1:c.7371+78= XM_005277444.1:c.7371+78T>C
PDE4DIP transcript variant X4 XM_005277445.1:c.7488+78= XM_005277445.1:c.7488+78T>C
PDE4DIP transcript variant X5 XM_005277446.1:c.7488+78= XM_005277446.1:c.7488+78T>C
PDE4DIP transcript variant X6 XM_005277447.1:c.7407+78= XM_005277447.1:c.7407+78T>C
PDE4DIP transcript variant X7 XM_005277448.1:c.7248+78= XM_005277448.1:c.7248+78T>C
PDE4DIP transcript variant X8 XM_005277449.1:c.7197+78= XM_005277449.1:c.7197+78T>C
PDE4DIP transcript variant X9 XM_005277450.1:c.7158+78= XM_005277450.1:c.7158+78T>C
PDE4DIP transcript variant X10 XM_005277451.1:c.7008+78= XM_005277451.1:c.7008+78T>C
PDE4DIP transcript variant X11 XM_005277452.1:c.6999+78= XM_005277452.1:c.6999+78T>C
PDE4DIP transcript variant X12 XM_005277453.1:c.6945+78= XM_005277453.1:c.6945+78T>C
PDE4DIP transcript variant X13 XM_005277454.1:c.6639+78= XM_005277454.1:c.6639+78T>C
PDE4DIP transcript variant X14 XM_005277455.1:c.4020+78= XM_005277455.1:c.4020+78T>C
PDE4DIP transcript variant X23 XM_011510176.3:c.6894+78= XM_011510176.3:c.6894+78T>C
PDE4DIP transcript variant X2 XM_017002879.2:c.7302+78= XM_017002879.2:c.7302+78T>C
PDE4DIP transcript variant X3 XM_017002881.2:c.7302+78= XM_017002881.2:c.7302+78T>C
PDE4DIP transcript variant X4 XM_017002882.2:c.7299+78= XM_017002882.2:c.7299+78T>C
PDE4DIP transcript variant X5 XM_017002883.2:c.7248+78= XM_017002883.2:c.7248+78T>C
PDE4DIP transcript variant X7 XM_017002884.2:c.7248+78= XM_017002884.2:c.7248+78T>C
PDE4DIP transcript variant X10 XM_017002885.2:c.7158+78= XM_017002885.2:c.7158+78T>C
PDE4DIP transcript variant X11 XM_017002886.2:c.7155+78= XM_017002886.2:c.7155+78T>C
PDE4DIP transcript variant X13 XM_017002890.2:c.7062+78= XM_017002890.2:c.7062+78T>C
PDE4DIP transcript variant X15 XM_017002896.2:c.7062+78= XM_017002896.2:c.7062+78T>C
PDE4DIP transcript variant X16 XM_017002897.2:c.7059+78= XM_017002897.2:c.7059+78T>C
PDE4DIP transcript variant X25 XM_017002900.2:c.6732+78= XM_017002900.2:c.6732+78T>C
PDE4DIP transcript variant X26 XM_017002901.2:c.6732+78= XM_017002901.2:c.6732+78T>C
PDE4DIP transcript variant X22 XM_024451068.2:c.6891+78= XM_024451068.2:c.6891+78T>C
PDE4DIP transcript variant X6 XM_047435063.1:c.7224+78= XM_047435063.1:c.7224+78T>C
PDE4DIP transcript variant X8 XM_047435064.1:c.7224+78= XM_047435064.1:c.7224+78T>C
PDE4DIP transcript variant X9 XM_047435065.1:c.7170+78= XM_047435065.1:c.7170+78T>C
PDE4DIP transcript variant X12 XM_047435066.1:c.7080+78= XM_047435066.1:c.7080+78T>C
PDE4DIP transcript variant X14 XM_047435070.1:c.7080+78= XM_047435070.1:c.7080+78T>C
PDE4DIP transcript variant X17 XM_047435071.1:c.6981+78= XM_047435071.1:c.6981+78T>C
PDE4DIP transcript variant X18 XM_047435072.1:c.6972+78= XM_047435072.1:c.6972+78T>C
PDE4DIP transcript variant X19 XM_047435073.1:c.6972+78= XM_047435073.1:c.6972+78T>C
PDE4DIP transcript variant X20 XM_047435074.1:c.6969+78= XM_047435074.1:c.6969+78T>C
PDE4DIP transcript variant X21 XM_047435075.1:c.6894+78= XM_047435075.1:c.6894+78T>C
PDE4DIP transcript variant X24 XM_047435076.1:c.6891+78= XM_047435076.1:c.6891+78T>C
PDE4DIP transcript variant X27 XM_047435081.1:c.6729+78= XM_047435081.1:c.6729+78T>C
PDE4DIP transcript variant X28 XM_047435082.1:c.6441+78= XM_047435082.1:c.6441+78T>C
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#.

27 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss35340809 May 24, 2005 (126)
2 ENSEMBL ss131681853 Dec 01, 2009 (131)
3 ENSEMBL ss143377195 Dec 01, 2009 (131)
4 GMI ss155672370 Dec 01, 2009 (131)
5 BUSHMAN ss199023762 Jul 04, 2010 (132)
6 GMI ss276024921 May 04, 2012 (137)
7 GMI ss284140658 Apr 25, 2013 (138)
8 SSMP ss648376217 Apr 25, 2013 (138)
9 DDI ss1425961259 Apr 09, 2015 (144)
10 WEILL_CORNELL_DGM ss1918854344 Feb 17, 2016 (147)
11 USC_VALOUEV ss2147969361 Oct 11, 2018 (152)
12 GRF ss2697927635 Oct 11, 2018 (152)
13 GNOMAD ss2760543017 Oct 11, 2018 (152)
14 SWEGEN ss2987625724 Oct 11, 2018 (152)
15 CSHL ss3343679945 Oct 11, 2018 (152)
16 OMUKHERJEE_ADBS ss3646239606 Oct 11, 2018 (152)
17 SGDP_PRJ ss3849853204 Apr 25, 2020 (154)
18 KRGDB ss3895023657 Apr 25, 2020 (154)
19 FSA-LAB ss3983942823 Apr 27, 2021 (155)
20 FSA-LAB ss3983942824 Apr 27, 2021 (155)
21 TOMMO_GENOMICS ss5146138295 Apr 27, 2021 (155)
22 EVA ss5623915898 Oct 17, 2022 (156)
23 SANFORD_IMAGENETICS ss5626475182 Oct 17, 2022 (156)
24 TOMMO_GENOMICS ss5673434235 Oct 17, 2022 (156)
25 EVA ss5832586280 Oct 17, 2022 (156)
26 EVA ss5979984181 Oct 17, 2022 (156)
27 EVA ss5981196331 Oct 17, 2022 (156)
28 KOREAN population from KRGDB NC_000001.10 - 144854087 Apr 25, 2020 (154)
29 Qatari NC_000001.10 - 144854087 Apr 25, 2020 (154)
30 SGDP_PRJ NC_000001.10 - 144854087 Apr 25, 2020 (154)
31 Siberian NC_000001.10 - 144854087 Apr 25, 2020 (154)
32 8.3KJPN NC_000001.10 - 144854087 Apr 27, 2021 (155)
33 14KJPN NC_000001.11 - 149030356 Oct 17, 2022 (156)
34 ALFA NC_000001.11 - 149030356 Apr 27, 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)
rs7410937 Aug 27, 2003 (117)
rs28572462 May 23, 2006 (127)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss199023762, ss276024921, ss284140658 NC_000001.9:143565443:A:G NC_000001.11:149030355:T:C (self)
2201051, 896274, 1870184, 485715, 4107602, ss648376217, ss1425961259, ss1918854344, ss2147969361, ss2697927635, ss2760543017, ss2987625724, ss3343679945, ss3646239606, ss3849853204, ss3895023657, ss3983942823, ss3983942824, ss5146138295, ss5623915898, ss5626475182, ss5832586280, ss5979984181, ss5981196331 NC_000001.10:144854086:A:G NC_000001.11:149030355:T:C (self)
7271339, 4299351780, ss5673434235 NC_000001.11:149030355:T:C NC_000001.11:149030355:T:C (self)
ss35340809, ss131681853, ss143377195, ss155672370 NT_167185.1:181673:A:G NC_000001.11:149030355:T:C (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 rs4997150

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.post761+d5e8e07