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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs769267206

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:105126996 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000004 (1/251396, GnomAD_exome)
T=0.000008 (1/121354, ExAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SRPK2 : Missense Variant
LOC124901717 : 2KB Upstream Variant
Publications
0 citations
Genomic View
See rs on genome
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
gnomAD - Exomes Global Study-wide 251396 C=0.999996 T=0.000004
gnomAD - Exomes European Sub 135338 C=0.999993 T=0.000007
gnomAD - Exomes Asian Sub 49006 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34586 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16256 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10074 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6136 C=1.0000 T=0.0000
ExAC Global Study-wide 121354 C=0.999992 T=0.000008
ExAC Europe Sub 73312 C=0.99999 T=0.00001
ExAC Asian Sub 25152 C=1.00000 T=0.00000
ExAC American Sub 11578 C=1.00000 T=0.00000
ExAC African Sub 10404 C=1.00000 T=0.00000
ExAC Other Sub 908 C=1.000 T=0.000
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 7 NC_000007.14:g.105126996C>T
GRCh37.p13 chr 7 NC_000007.13:g.104767443C>T
Gene: SRPK2, SRSF protein kinase 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SRPK2 transcript variant 12 NM_001350746.2:c.1830+579…

NM_001350746.2:c.1830+5795G>A

 		N/A Intron Variant
SRPK2 transcript variant 1 NM_182692.3:c.1819G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform a NP_872634.1:p.Glu607Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant 6 NM_001350740.2:c.1930G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform d NP_001337669.1:p.Glu644Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant 9 NM_001350743.2:c.1786G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform g NP_001337672.1:p.Glu596Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant 3 NM_001278273.2:c.1786G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform b precursor NP_001265202.1:p.Glu596Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant 7 NM_001350741.2:c.1819G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform e NP_001337670.1:p.Glu607Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant 11 NM_001350745.2:c.1648G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform h NP_001337674.1:p.Glu550Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant 8 NM_001350742.2:c.1897G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform f NP_001337671.1:p.Glu633Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant 2 NM_182691.3:c.1786G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform b precursor NP_872633.1:p.Glu596Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant 10 NM_001350744.2:c.1786G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform g NP_001337673.1:p.Glu596Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant 5 NM_001350739.2:c.1786G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform c NP_001337668.1:p.Glu596Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant 4 NM_001350738.2:c.1786G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform b NP_001337667.1:p.Glu596Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X21 XM_047420776.1:c.1752+579…

XM_047420776.1:c.1752+5795G>A

 		N/A Intron Variant
SRPK2 transcript variant X13 XM_011516538.3:c.1786G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X6 XP_011514840.1:p.Glu596Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X1 XM_024446893.2:c.1897G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X1 XP_024302661.1:p.Glu633Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X5 XM_017012561.3:c.1897G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X2 XP_016868050.2:p.Glu633Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X7 XM_024446894.2:c.1930G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X3 XP_024302662.1:p.Glu644Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X8 XM_024446895.2:c.1930G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X4 XP_024302663.1:p.Glu644Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X10 XM_011516536.4:c.1819G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X5 XP_011514838.1:p.Glu607Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X11 XM_006716098.4:c.1786G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X6 XP_006716161.1:p.Glu596Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X12 XM_047420772.1:c.1786G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X6 XP_047276728.1:p.Glu596Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X18 XM_047420773.1:c.1819G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X7 XP_047276729.1:p.Glu607Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X19 XM_047420774.1:c.1486G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X8 XP_047276730.1:p.Glu496Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X20 XM_047420775.1:c.1486G>A E [GAA] > K [AAA] Coding Sequence Variant
SRSF protein kinase 2 isoform X8 XP_047276731.1:p.Glu496Lys E (Glu) > K (Lys) Missense Variant
SRPK2 transcript variant X2 XR_001744861.3:n.2015G>A N/A Non Coding Transcript Variant
SRPK2 transcript variant X3 XR_001744862.3:n.2015G>A N/A Non Coding Transcript Variant
SRPK2 transcript variant X4 XR_007060147.1:n.2015G>A N/A Non Coding Transcript Variant
SRPK2 transcript variant X6 XR_001744863.3:n.2015G>A N/A Non Coding Transcript Variant
SRPK2 transcript variant X9 XR_007060148.1:n.1934G>A N/A Non Coding Transcript Variant
SRPK2 transcript variant X17 XR_007060152.1:n.1934G>A N/A Non Coding Transcript Variant
SRPK2 transcript variant X14 XR_007060149.1:n. N/A Intron Variant
SRPK2 transcript variant X15 XR_007060150.1:n. N/A Intron Variant
SRPK2 transcript variant X16 XR_007060151.1:n. N/A Intron Variant
SRPK2 transcript variant X22 XR_007060153.1:n. N/A Intron Variant
Gene: LOC124901717, uncharacterized LOC124901717 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
LOC124901717 transcript XR_007060465.1: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
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 C= T
GRCh38.p14 chr 7 NC_000007.14:g.105126996= NC_000007.14:g.105126996C>T
GRCh37.p13 chr 7 NC_000007.13:g.104767443= NC_000007.13:g.104767443C>T
SRPK2 transcript variant X11 XM_006716098.4:c.1786= XM_006716098.4:c.1786G>A
SRPK2 transcript variant X11 XM_006716098.3:c.1786= XM_006716098.3:c.1786G>A
SRPK2 transcript variant X15 XM_006716098.2:c.1786= XM_006716098.2:c.1786G>A
SRPK2 transcript variant X4 XM_006716098.1:c.1786= XM_006716098.1:c.1786G>A
SRPK2 transcript variant X10 XM_011516536.4:c.1819= XM_011516536.4:c.1819G>A
SRPK2 transcript variant X10 XM_011516536.3:c.1819= XM_011516536.3:c.1819G>A
SRPK2 transcript variant X12 XM_011516536.2:c.1819= XM_011516536.2:c.1819G>A
SRPK2 transcript variant X11 XM_011516536.1:c.1819= XM_011516536.1:c.1819G>A
SRPK2 transcript variant X2 XR_001744861.3:n.2015= XR_001744861.3:n.2015G>A
SRPK2 transcript variant X4 XR_001744861.2:n.1966= XR_001744861.2:n.1966G>A
SRPK2 transcript variant X3 XR_001744861.1:n.1867= XR_001744861.1:n.1867G>A
SRPK2 transcript variant X6 XR_001744863.3:n.2015= XR_001744863.3:n.2015G>A
SRPK2 transcript variant X6 XR_001744863.2:n.1959= XR_001744863.2:n.1959G>A
SRPK2 transcript variant X6 XR_001744863.1:n.1867= XR_001744863.1:n.1867G>A
SRPK2 transcript variant X5 XM_017012561.3:c.1897= XM_017012561.3:c.1897G>A
SRPK2 transcript variant X7 XM_017012561.2:c.1897= XM_017012561.2:c.1897G>A
SRPK2 transcript variant X7 XM_017012561.1:c.1786= XM_017012561.1:c.1786G>A
SRPK2 transcript variant 2 NM_182691.3:c.1786= NM_182691.3:c.1786G>A
SRPK2 transcript variant 2 NM_182691.2:c.1786= NM_182691.2:c.1786G>A
SRPK2 transcript variant 1 NM_182692.3:c.1819= NM_182692.3:c.1819G>A
SRPK2 transcript variant 1 NM_182692.2:c.1819= NM_182692.2:c.1819G>A
SRPK2 transcript variant X13 XM_011516538.3:c.1786= XM_011516538.3:c.1786G>A
SRPK2 transcript variant X16 XM_011516538.2:c.1786= XM_011516538.2:c.1786G>A
SRPK2 transcript variant X15 XM_011516538.1:c.1786= XM_011516538.1:c.1786G>A
SRPK2 transcript variant X3 XR_001744862.3:n.2015= XR_001744862.3:n.2015G>A
SRPK2 transcript variant X5 XR_001744862.2:n.1966= XR_001744862.2:n.1966G>A
SRPK2 transcript variant X4 XR_001744862.1:n.1867= XR_001744862.1:n.1867G>A
SRPK2 transcript variant X1 XM_024446893.2:c.1897= XM_024446893.2:c.1897G>A
SRPK2 transcript variant X1 XM_024446893.1:c.1897= XM_024446893.1:c.1897G>A
SRPK2 transcript variant 9 NM_001350743.2:c.1786= NM_001350743.2:c.1786G>A
SRPK2 transcript variant 9 NM_001350743.1:c.1786= NM_001350743.1:c.1786G>A
SRPK2 transcript variant 10 NM_001350744.2:c.1786= NM_001350744.2:c.1786G>A
SRPK2 transcript variant 10 NM_001350744.1:c.1786= NM_001350744.1:c.1786G>A
SRPK2 transcript variant X7 XM_024446894.2:c.1930= XM_024446894.2:c.1930G>A
SRPK2 transcript variant X8 XM_024446894.1:c.1930= XM_024446894.1:c.1930G>A
SRPK2 transcript variant 7 NM_001350741.2:c.1819= NM_001350741.2:c.1819G>A
SRPK2 transcript variant 7 NM_001350741.1:c.1819= NM_001350741.1:c.1819G>A
SRPK2 transcript variant 8 NM_001350742.2:c.1897= NM_001350742.2:c.1897G>A
SRPK2 transcript variant 8 NM_001350742.1:c.1897= NM_001350742.1:c.1897G>A
SRPK2 transcript variant 4 NM_001350738.2:c.1786= NM_001350738.2:c.1786G>A
SRPK2 transcript variant 4 NM_001350738.1:c.1786= NM_001350738.1:c.1786G>A
SRPK2 transcript variant 5 NM_001350739.2:c.1786= NM_001350739.2:c.1786G>A
SRPK2 transcript variant 5 NM_001350739.1:c.1786= NM_001350739.1:c.1786G>A
SRPK2 transcript variant 3 NM_001278273.2:c.1786= NM_001278273.2:c.1786G>A
SRPK2 transcript variant 3 NM_001278273.1:c.1786= NM_001278273.1:c.1786G>A
SRPK2 transcript variant X8 XM_024446895.2:c.1930= XM_024446895.2:c.1930G>A
SRPK2 transcript variant X9 XM_024446895.1:c.1930= XM_024446895.1:c.1930G>A
SRPK2 transcript variant 6 NM_001350740.2:c.1930= NM_001350740.2:c.1930G>A
SRPK2 transcript variant 6 NM_001350740.1:c.1930= NM_001350740.1:c.1930G>A
SRPK2 transcript variant 11 NM_001350745.2:c.1648= NM_001350745.2:c.1648G>A
SRPK2 transcript variant 11 NM_001350745.1:c.1648= NM_001350745.1:c.1648G>A
SRPK2 transcript variant X17 XR_007060152.1:n.1934= XR_007060152.1:n.1934G>A
SRPK2 transcript variant X12 XM_047420772.1:c.1786= XM_047420772.1:c.1786G>A
SRPK2 transcript variant X20 XM_047420775.1:c.1486= XM_047420775.1:c.1486G>A
SRPK2 transcript variant X19 XM_047420774.1:c.1486= XM_047420774.1:c.1486G>A
SRPK2 transcript variant X18 XM_047420773.1:c.1819= XM_047420773.1:c.1819G>A
SRPK2 transcript variant X9 XR_007060148.1:n.1934= XR_007060148.1:n.1934G>A
SRPK2 transcript variant X4 XR_007060147.1:n.2015= XR_007060147.1:n.2015G>A
SRSF protein kinase 2 isoform X6 XP_006716161.1:p.Glu596= XP_006716161.1:p.Glu596Lys
SRSF protein kinase 2 isoform X5 XP_011514838.1:p.Glu607= XP_011514838.1:p.Glu607Lys
SRSF protein kinase 2 isoform X2 XP_016868050.2:p.Glu633= XP_016868050.2:p.Glu633Lys
SRSF protein kinase 2 isoform b precursor NP_872633.1:p.Glu596= NP_872633.1:p.Glu596Lys
SRSF protein kinase 2 isoform a NP_872634.1:p.Glu607= NP_872634.1:p.Glu607Lys
SRSF protein kinase 2 isoform X6 XP_011514840.1:p.Glu596= XP_011514840.1:p.Glu596Lys
SRSF protein kinase 2 isoform X1 XP_024302661.1:p.Glu633= XP_024302661.1:p.Glu633Lys
SRSF protein kinase 2 isoform g NP_001337672.1:p.Glu596= NP_001337672.1:p.Glu596Lys
SRSF protein kinase 2 isoform g NP_001337673.1:p.Glu596= NP_001337673.1:p.Glu596Lys
SRSF protein kinase 2 isoform X3 XP_024302662.1:p.Glu644= XP_024302662.1:p.Glu644Lys
SRSF protein kinase 2 isoform e NP_001337670.1:p.Glu607= NP_001337670.1:p.Glu607Lys
SRSF protein kinase 2 isoform f NP_001337671.1:p.Glu633= NP_001337671.1:p.Glu633Lys
SRSF protein kinase 2 isoform b NP_001337667.1:p.Glu596= NP_001337667.1:p.Glu596Lys
SRSF protein kinase 2 isoform c NP_001337668.1:p.Glu596= NP_001337668.1:p.Glu596Lys
SRSF protein kinase 2 isoform b precursor NP_001265202.1:p.Glu596= NP_001265202.1:p.Glu596Lys
SRSF protein kinase 2 isoform X4 XP_024302663.1:p.Glu644= XP_024302663.1:p.Glu644Lys
SRSF protein kinase 2 isoform d NP_001337669.1:p.Glu644= NP_001337669.1:p.Glu644Lys
SRSF protein kinase 2 isoform h NP_001337674.1:p.Glu550= NP_001337674.1:p.Glu550Lys
SRSF protein kinase 2 isoform X6 XP_047276728.1:p.Glu596= XP_047276728.1:p.Glu596Lys
SRSF protein kinase 2 isoform X8 XP_047276731.1:p.Glu496= XP_047276731.1:p.Glu496Lys
SRSF protein kinase 2 isoform X8 XP_047276730.1:p.Glu496= XP_047276730.1:p.Glu496Lys
SRSF protein kinase 2 isoform X7 XP_047276729.1:p.Glu607= XP_047276729.1:p.Glu607Lys
SRPK2 transcript variant 12 NM_001350746.2:c.1830+5795= NM_001350746.2:c.1830+5795G>A
SRPK2 transcript variant X21 XM_047420776.1:c.1752+5795= XM_047420776.1:c.1752+5795G>A
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#.

4 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1688893449 Apr 01, 2015 (144)
2 HUMAN_LONGEVITY ss2296478617 Dec 20, 2016 (150)
3 GNOMAD ss2736682007 Nov 08, 2017 (151)
4 HUGCELL_USP ss5471118737 Oct 16, 2022 (156)
5 ExAC NC_000007.13 - 104767443 Oct 12, 2018 (152)
6 gnomAD - Exomes NC_000007.13 - 104767443 Jul 13, 2019 (153)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
8971481, 5844042, ss1688893449, ss2736682007 NC_000007.13:104767442:C:T NC_000007.14:105126995:C:T (self)
ss2296478617, ss5471118737 NC_000007.14:105126995:C:T NC_000007.14:105126995:C: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 rs769267206

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