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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.

rs1482435483

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:33549642 (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>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/248792, GnomAD_exome)
A=0.00005 (1/21382, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RASGRP3 : Missense 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 21382 T=0.99995 A=0.00005 0.999906 0.0 9.4e-05 0
European Sub 16898 T=0.99994 A=0.00006 0.999882 0.0 0.000118 0
African Sub 20 T=1.00 A=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 T=0 A=0 0 0 0 N/A
African American Sub 20 T=1.00 A=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 T=0 A=0 0 0 0 N/A
East Asian Sub 0 T=0 A=0 0 0 0 N/A
Other Asian Sub 0 T=0 A=0 0 0 0 N/A
Latin American 1 Sub 354 T=1.000 A=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 18 T=1.00 A=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 T=0 A=0 0 0 0 N/A
Other Sub 4092 T=1.0000 A=0.0000 1.0 0.0 0.0 N/A


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 248792 T=0.999996 A=0.000004
gnomAD - Exomes European Sub 134330 T=0.999993 A=0.000007
gnomAD - Exomes Asian Sub 48426 T=1.00000 A=0.00000
gnomAD - Exomes American Sub 34470 T=1.00000 A=0.00000
gnomAD - Exomes African Sub 15468 T=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10054 T=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6044 T=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 21382 T=0.99995 A=0.00005
Allele Frequency Aggregator European Sub 16898 T=0.99994 A=0.00006
Allele Frequency Aggregator Other Sub 4092 T=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 1 Sub 354 T=1.000 A=0.000
Allele Frequency Aggregator African Sub 20 T=1.00 A=0.00
Allele Frequency Aggregator Latin American 2 Sub 18 T=1.00 A=0.00
Allele Frequency Aggregator South Asian Sub 0 T=0 A=0
Allele Frequency Aggregator Asian Sub 0 T=0 A=0
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 2 NC_000002.12:g.33549642T>A
GRCh37.p13 chr 2 NC_000002.11:g.33774709T>A
RASGRP3 RefSeqGene NG_053077.1:g.118295T>A
Gene: RASGRP3, RAS guanyl releasing protein 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RASGRP3 transcript variant 1 NM_001139488.2:c.1433T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform 1 NP_001132960.1:p.Phe478Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant 2 NM_170672.3:c.1433T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform 1 NP_733772.1:p.Phe478Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant 9 NM_001349980.2:c.1430T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform 2 NP_001336909.1:p.Phe477Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant 10 NM_001349981.2:c.1430T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform 2 NP_001336910.1:p.Phe477Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant 6 NM_001349977.2:c.1433T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform 1 NP_001336906.1:p.Phe478Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant 4 NM_001349975.2:c.1433T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform 1 NP_001336904.1:p.Phe478Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant 5 NM_001349976.2:c.1433T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform 1 NP_001336905.1:p.Phe478Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant 7 NM_001349978.2:c.1430T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform 2 NP_001336907.1:p.Phe477Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant 8 NM_001349979.2:c.1430T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform 2 NP_001336908.1:p.Phe477Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant 3 NM_015376.3:c.1430T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform 2 NP_056191.1:p.Phe477Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant X1 XM_017003761.3:c.1433T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform X1 XP_016859250.1:p.Phe478Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant X2 XM_011532748.4:c.1433T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform X1 XP_011531050.2:p.Phe478Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant X3 XM_011532746.4:c.1433T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform X1 XP_011531048.1:p.Phe478Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant X4 XM_047443877.1:c.1433T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform X1 XP_047299833.1:p.Phe478Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant X5 XM_047443878.1:c.1430T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform X2 XP_047299834.1:p.Phe477Tyr F (Phe) > Y (Tyr) Missense Variant
RASGRP3 transcript variant X6 XM_047443879.1:c.1430T>A F [TTC] > Y [TAC] Coding Sequence Variant
ras guanyl-releasing protein 3 isoform X2 XP_047299835.1:p.Phe477Tyr F (Phe) > Y (Tyr) Missense 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= A
GRCh38.p14 chr 2 NC_000002.12:g.33549642= NC_000002.12:g.33549642T>A
GRCh37.p13 chr 2 NC_000002.11:g.33774709= NC_000002.11:g.33774709T>A
RASGRP3 RefSeqGene NG_053077.1:g.118295= NG_053077.1:g.118295T>A
RASGRP3 transcript variant 2 NM_170672.3:c.1433= NM_170672.3:c.1433T>A
RASGRP3 transcript variant 2 NM_170672.2:c.1433= NM_170672.2:c.1433T>A
RASGRP3 transcript variant 3 NM_015376.3:c.1430= NM_015376.3:c.1430T>A
RASGRP3 transcript variant 3 NM_015376.2:c.1430= NM_015376.2:c.1430T>A
RASGRP3 transcript variant 4 NM_001349975.2:c.1433= NM_001349975.2:c.1433T>A
RASGRP3 transcript variant 4 NM_001349975.1:c.1433= NM_001349975.1:c.1433T>A
RASGRP3 transcript variant 7 NM_001349978.2:c.1430= NM_001349978.2:c.1430T>A
RASGRP3 transcript variant 7 NM_001349978.1:c.1430= NM_001349978.1:c.1430T>A
RASGRP3 transcript variant 6 NM_001349977.2:c.1433= NM_001349977.2:c.1433T>A
RASGRP3 transcript variant 6 NM_001349977.1:c.1433= NM_001349977.1:c.1433T>A
RASGRP3 transcript variant 9 NM_001349980.2:c.1430= NM_001349980.2:c.1430T>A
RASGRP3 transcript variant 9 NM_001349980.1:c.1430= NM_001349980.1:c.1430T>A
RASGRP3 transcript variant 8 NM_001349979.2:c.1430= NM_001349979.2:c.1430T>A
RASGRP3 transcript variant 8 NM_001349979.1:c.1430= NM_001349979.1:c.1430T>A
RASGRP3 transcript variant 1 NM_001139488.2:c.1433= NM_001139488.2:c.1433T>A
RASGRP3 transcript variant 1 NM_001139488.1:c.1433= NM_001139488.1:c.1433T>A
RASGRP3 transcript variant 10 NM_001349981.2:c.1430= NM_001349981.2:c.1430T>A
RASGRP3 transcript variant 10 NM_001349981.1:c.1430= NM_001349981.1:c.1430T>A
RASGRP3 transcript variant 5 NM_001349976.2:c.1433= NM_001349976.2:c.1433T>A
RASGRP3 transcript variant 5 NM_001349976.1:c.1433= NM_001349976.1:c.1433T>A
RASGRP3 transcript variant X3 XM_011532746.4:c.1433= XM_011532746.4:c.1433T>A
RASGRP3 transcript variant X4 XM_011532746.3:c.1433= XM_011532746.3:c.1433T>A
RASGRP3 transcript variant X5 XM_011532746.2:c.1433= XM_011532746.2:c.1433T>A
RASGRP3 transcript variant X1 XM_011532746.1:c.1433= XM_011532746.1:c.1433T>A
RASGRP3 transcript variant X2 XM_011532748.4:c.1433= XM_011532748.4:c.1433T>A
RASGRP3 transcript variant X2 XM_011532748.3:c.1433= XM_011532748.3:c.1433T>A
RASGRP3 transcript variant X2 XM_011532748.2:c.1433= XM_011532748.2:c.1433T>A
RASGRP3 transcript variant X4 XM_011532748.1:c.1142= XM_011532748.1:c.1142T>A
RASGRP3 transcript variant X1 XM_017003761.3:c.1433= XM_017003761.3:c.1433T>A
RASGRP3 transcript variant X3 XM_017003761.2:c.1433= XM_017003761.2:c.1433T>A
RASGRP3 transcript variant X4 XM_017003761.1:c.1433= XM_017003761.1:c.1433T>A
RASGRP3 transcript variant X5 XM_047443878.1:c.1430= XM_047443878.1:c.1430T>A
RASGRP3 transcript variant X4 XM_047443877.1:c.1433= XM_047443877.1:c.1433T>A
RASGRP3 transcript variant X6 XM_047443879.1:c.1430= XM_047443879.1:c.1430T>A
ras guanyl-releasing protein 3 isoform 1 NP_733772.1:p.Phe478= NP_733772.1:p.Phe478Tyr
ras guanyl-releasing protein 3 isoform 2 NP_056191.1:p.Phe477= NP_056191.1:p.Phe477Tyr
ras guanyl-releasing protein 3 isoform 1 NP_001336904.1:p.Phe478= NP_001336904.1:p.Phe478Tyr
ras guanyl-releasing protein 3 isoform 2 NP_001336907.1:p.Phe477= NP_001336907.1:p.Phe477Tyr
ras guanyl-releasing protein 3 isoform 1 NP_001336906.1:p.Phe478= NP_001336906.1:p.Phe478Tyr
ras guanyl-releasing protein 3 isoform 2 NP_001336909.1:p.Phe477= NP_001336909.1:p.Phe477Tyr
ras guanyl-releasing protein 3 isoform 2 NP_001336908.1:p.Phe477= NP_001336908.1:p.Phe477Tyr
ras guanyl-releasing protein 3 isoform 1 NP_001132960.1:p.Phe478= NP_001132960.1:p.Phe478Tyr
ras guanyl-releasing protein 3 isoform 2 NP_001336910.1:p.Phe477= NP_001336910.1:p.Phe477Tyr
ras guanyl-releasing protein 3 isoform 1 NP_001336905.1:p.Phe478= NP_001336905.1:p.Phe478Tyr
ras guanyl-releasing protein 3 isoform X1 XP_011531048.1:p.Phe478= XP_011531048.1:p.Phe478Tyr
ras guanyl-releasing protein 3 isoform X1 XP_011531050.2:p.Phe478= XP_011531050.2:p.Phe478Tyr
ras guanyl-releasing protein 3 isoform X1 XP_016859250.1:p.Phe478= XP_016859250.1:p.Phe478Tyr
ras guanyl-releasing protein 3 isoform X2 XP_047299834.1:p.Phe477= XP_047299834.1:p.Phe477Tyr
ras guanyl-releasing protein 3 isoform X1 XP_047299833.1:p.Phe478= XP_047299833.1:p.Phe478Tyr
ras guanyl-releasing protein 3 isoform X2 XP_047299835.1:p.Phe477= XP_047299835.1:p.Phe477Tyr
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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2732594061 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000002.11 - 33774709 Jul 13, 2019 (153)
3 ALFA NC_000002.12 - 33549642 Apr 26, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1639068, ss2732594061 NC_000002.11:33774708:T:A NC_000002.12:33549641:T:A (self)
2853763817 NC_000002.12:33549641:T:A NC_000002.12:33549641:T: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 rs1482435483

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