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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.

rs1481647348

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:109991753 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/249642, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GIT2 : Synonymous 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 249642 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 134642 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 48558 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 34104 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16194 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10050 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6094 G=1.0000 A=0.0000
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 12 NC_000012.12:g.109991753G>A
GRCh37.p13 chr 12 NC_000012.11:g.110429558G>A
GIT2 RefSeqGene NG_029885.1:g.9637C>T
Gene: GIT2, GIT ArfGAP 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GIT2 transcript variant 1 NM_057169.5:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform 1 NP_476510.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant 3 NM_014776.5:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform 3 NP_055591.2:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant 8 NM_001330154.2:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform 8 NP_001317083.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant 5 NM_001135214.3:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform 5 NP_001128686.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant 2 NM_057170.5:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform 2 NP_476511.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant 4 NM_139201.3:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform 4 NP_631940.2:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant 6 NM_001135213.3:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform 6 NP_001128685.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant 7 NM_001330153.2:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform 7 NP_001317082.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X8 XM_047429924.1:c.-127= N/A 5 Prime UTR Variant
GIT2 transcript variant X10 XM_047429926.1:c.-127= N/A 5 Prime UTR Variant
GIT2 transcript variant X1 XM_005253997.5:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X1 XP_005254054.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X2 XM_006719707.5:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X2 XP_006719770.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X3 XM_047429922.1:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X3 XP_047285878.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X4 XM_047429923.1:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X4 XP_047285879.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X5 XM_006719708.5:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X5 XP_006719771.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X6 XM_017020258.3:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X6 XP_016875747.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X7 XM_006719709.5:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X7 XP_006719772.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X9 XM_047429925.1:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X9 XP_047285881.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X11 XM_006719712.5:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X11 XP_006719775.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X12 XM_017020261.3:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X12 XP_016875750.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X13 XM_006719713.5:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X13 XP_006719776.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X14 XM_047429927.1:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X14 XP_047285883.1:p.Ser20= S (Ser) > S (Ser) Synonymous Variant
GIT2 transcript variant X15 XM_047429928.1:c.60C>T S [TCC] > S [TCT] Coding Sequence Variant
ARF GTPase-activating protein GIT2 isoform X15 XP_047285884.1:p.Ser20= S (Ser) > S (Ser) Synonymous 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 G= A
GRCh38.p14 chr 12 NC_000012.12:g.109991753= NC_000012.12:g.109991753G>A
GRCh37.p13 chr 12 NC_000012.11:g.110429558= NC_000012.11:g.110429558G>A
GIT2 RefSeqGene NG_029885.1:g.9637= NG_029885.1:g.9637C>T
GIT2 transcript variant 1 NM_057169.5:c.60= NM_057169.5:c.60C>T
GIT2 transcript variant 1 NM_057169.4:c.60= NM_057169.4:c.60C>T
GIT2 transcript variant 1 NM_057169.3:c.60= NM_057169.3:c.60C>T
GIT2 transcript variant 3 NM_014776.5:c.60= NM_014776.5:c.60C>T
GIT2 transcript variant 3 NM_014776.4:c.60= NM_014776.4:c.60C>T
GIT2 transcript variant 3 NM_014776.3:c.60= NM_014776.3:c.60C>T
GIT2 transcript variant 2 NM_057170.5:c.60= NM_057170.5:c.60C>T
GIT2 transcript variant 2 NM_057170.4:c.60= NM_057170.4:c.60C>T
GIT2 transcript variant 2 NM_057170.3:c.60= NM_057170.3:c.60C>T
GIT2 transcript variant 5 NM_001135214.3:c.60= NM_001135214.3:c.60C>T
GIT2 transcript variant 5 NM_001135214.2:c.60= NM_001135214.2:c.60C>T
GIT2 transcript variant 5 NM_001135214.1:c.60= NM_001135214.1:c.60C>T
GIT2 transcript variant 6 NM_001135213.3:c.60= NM_001135213.3:c.60C>T
GIT2 transcript variant 6 NM_001135213.2:c.60= NM_001135213.2:c.60C>T
GIT2 transcript variant 6 NM_001135213.1:c.60= NM_001135213.1:c.60C>T
GIT2 transcript variant 4 NM_139201.3:c.60= NM_139201.3:c.60C>T
GIT2 transcript variant 4 NM_139201.2:c.60= NM_139201.2:c.60C>T
GIT2 transcript variant 7 NM_001330153.2:c.60= NM_001330153.2:c.60C>T
GIT2 transcript variant 7 NM_001330153.1:c.60= NM_001330153.1:c.60C>T
GIT2 transcript variant 8 NM_001330154.2:c.60= NM_001330154.2:c.60C>T
GIT2 transcript variant 8 NM_001330154.1:c.60= NM_001330154.1:c.60C>T
GIT2 transcript variant X1 XM_005253997.5:c.60= XM_005253997.5:c.60C>T
GIT2 transcript variant X1 XM_005253997.4:c.60= XM_005253997.4:c.60C>T
GIT2 transcript variant X1 XM_005253997.3:c.60= XM_005253997.3:c.60C>T
GIT2 transcript variant X1 XM_005253997.2:c.60= XM_005253997.2:c.60C>T
GIT2 transcript variant X3 XM_005253997.1:c.60= XM_005253997.1:c.60C>T
GIT2 transcript variant X2 XM_006719707.5:c.60= XM_006719707.5:c.60C>T
GIT2 transcript variant X2 XM_006719707.4:c.60= XM_006719707.4:c.60C>T
GIT2 transcript variant X2 XM_006719707.3:c.60= XM_006719707.3:c.60C>T
GIT2 transcript variant X2 XM_006719707.2:c.60= XM_006719707.2:c.60C>T
GIT2 transcript variant X7 XM_006719707.1:c.60= XM_006719707.1:c.60C>T
GIT2 transcript variant X5 XM_006719708.5:c.60= XM_006719708.5:c.60C>T
GIT2 transcript variant X3 XM_006719708.4:c.60= XM_006719708.4:c.60C>T
GIT2 transcript variant X3 XM_006719708.3:c.60= XM_006719708.3:c.60C>T
GIT2 transcript variant X3 XM_006719708.2:c.60= XM_006719708.2:c.60C>T
GIT2 transcript variant X8 XM_006719708.1:c.60= XM_006719708.1:c.60C>T
GIT2 transcript variant X7 XM_006719709.5:c.60= XM_006719709.5:c.60C>T
GIT2 transcript variant X5 XM_006719709.4:c.60= XM_006719709.4:c.60C>T
GIT2 transcript variant X5 XM_006719709.3:c.60= XM_006719709.3:c.60C>T
GIT2 transcript variant X4 XM_006719709.2:c.60= XM_006719709.2:c.60C>T
GIT2 transcript variant X9 XM_006719709.1:c.60= XM_006719709.1:c.60C>T
GIT2 transcript variant X11 XM_006719712.5:c.60= XM_006719712.5:c.60C>T
GIT2 transcript variant X8 XM_006719712.4:c.60= XM_006719712.4:c.60C>T
GIT2 transcript variant X9 XM_006719712.3:c.60= XM_006719712.3:c.60C>T
GIT2 transcript variant X6 XM_006719712.2:c.60= XM_006719712.2:c.60C>T
GIT2 transcript variant X12 XM_006719712.1:c.60= XM_006719712.1:c.60C>T
GIT2 transcript variant X13 XM_006719713.5:c.60= XM_006719713.5:c.60C>T
GIT2 transcript variant X10 XM_006719713.4:c.60= XM_006719713.4:c.60C>T
GIT2 transcript variant X11 XM_006719713.3:c.60= XM_006719713.3:c.60C>T
GIT2 transcript variant X7 XM_006719713.2:c.60= XM_006719713.2:c.60C>T
GIT2 transcript variant X13 XM_006719713.1:c.60= XM_006719713.1:c.60C>T
GIT2 transcript variant X6 XM_017020258.3:c.60= XM_017020258.3:c.60C>T
GIT2 transcript variant X4 XM_017020258.2:c.60= XM_017020258.2:c.60C>T
GIT2 transcript variant X4 XM_017020258.1:c.60= XM_017020258.1:c.60C>T
GIT2 transcript variant X12 XM_017020261.3:c.60= XM_017020261.3:c.60C>T
GIT2 transcript variant X9 XM_017020261.2:c.60= XM_017020261.2:c.60C>T
GIT2 transcript variant X10 XM_017020261.1:c.60= XM_017020261.1:c.60C>T
GIT2 transcript variant X10 XM_047429926.1:c.-127= XM_047429926.1:c.-127C>T
GIT2 transcript variant X8 XM_047429924.1:c.-127= XM_047429924.1:c.-127C>T
GIT2 transcript variant X3 XM_047429922.1:c.60= XM_047429922.1:c.60C>T
GIT2 transcript variant X4 XM_047429923.1:c.60= XM_047429923.1:c.60C>T
GIT2 transcript variant X9 XM_047429925.1:c.60= XM_047429925.1:c.60C>T
GIT2 transcript variant X14 XM_047429927.1:c.60= XM_047429927.1:c.60C>T
GIT2 transcript variant X15 XM_047429928.1:c.60= XM_047429928.1:c.60C>T
ARF GTPase-activating protein GIT2 isoform 1 NP_476510.1:p.Ser20= NP_476510.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform 3 NP_055591.2:p.Ser20= NP_055591.2:p.Ser20=
ARF GTPase-activating protein GIT2 isoform 2 NP_476511.1:p.Ser20= NP_476511.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform 5 NP_001128686.1:p.Ser20= NP_001128686.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform 6 NP_001128685.1:p.Ser20= NP_001128685.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform 4 NP_631940.2:p.Ser20= NP_631940.2:p.Ser20=
ARF GTPase-activating protein GIT2 isoform 7 NP_001317082.1:p.Ser20= NP_001317082.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform 8 NP_001317083.1:p.Ser20= NP_001317083.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X1 XP_005254054.1:p.Ser20= XP_005254054.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X2 XP_006719770.1:p.Ser20= XP_006719770.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X5 XP_006719771.1:p.Ser20= XP_006719771.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X7 XP_006719772.1:p.Ser20= XP_006719772.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X11 XP_006719775.1:p.Ser20= XP_006719775.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X13 XP_006719776.1:p.Ser20= XP_006719776.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X6 XP_016875747.1:p.Ser20= XP_016875747.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X12 XP_016875750.1:p.Ser20= XP_016875750.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X3 XP_047285878.1:p.Ser20= XP_047285878.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X4 XP_047285879.1:p.Ser20= XP_047285879.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X9 XP_047285881.1:p.Ser20= XP_047285881.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X14 XP_047285883.1:p.Ser20= XP_047285883.1:p.Ser20=
ARF GTPase-activating protein GIT2 isoform X15 XP_047285884.1:p.Ser20= XP_047285884.1:p.Ser20=
GIT2 transcript variant X10 XM_005254004.1:c.1-1951= XM_005254004.1:c.1-1951C>T
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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2740124947 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000012.11 - 110429558 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
9363286, ss2740124947 NC_000012.11:110429557:G:A NC_000012.12:109991752:G:A (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 rs1481647348

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.post820+afb47a3d