Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1487896339

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:11031082 (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 / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00020 (3/15150, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TAS2R31 : Missense Variant
PRH1 : Intron Variant
PRH1-PRR4 : Intron Variant (+ 1 more)
PRH1-TAS2R14 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 15150 T=0.99980 A=0.00020, C=0.00000 0.999604 0.0 0.000396 0
European Sub 11424 T=0.99974 A=0.00026, C=0.00000 0.999475 0.0 0.000525 0
African Sub 2294 T=1.0000 A=0.0000, C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 T=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 T=1.0000 A=0.0000, C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 T=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 T=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 T=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 T=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
Other Sub 474 T=1.000 A=0.000, C=0.000 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
Allele Frequency Aggregator Total Global 15150 T=0.99980 A=0.00020, C=0.00000
Allele Frequency Aggregator European Sub 11424 T=0.99974 A=0.00026, C=0.00000
Allele Frequency Aggregator African Sub 2294 T=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Other Sub 474 T=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 108 T=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 94 T=1.00 A=0.00, C=0.00
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.11031082T>A
GRCh38.p14 chr 12 NC_000012.12:g.11031082T>C
GRCh37.p13 chr 12 NC_000012.11:g.11183681T>A
GRCh37.p13 chr 12 NC_000012.11:g.11183681T>C
GRCh38.p14 chr 12 alt locus HSCHR12_3_CTG2 NT_187658.1:g.230087T>A
GRCh38.p14 chr 12 alt locus HSCHR12_3_CTG2 NT_187658.1:g.230087T>C
GRCh37.p13 chr 12 novel patch HG1133_PATCH NW_003571047.1:g.230098T>A
GRCh37.p13 chr 12 novel patch HG1133_PATCH NW_003571047.1:g.230098T>C
GRCh38.p14 chr 12 alt locus HSCHR12_2_CTG2 NW_003571050.1:g.229788T>A
GRCh38.p14 chr 12 alt locus HSCHR12_2_CTG2 NW_003571050.1:g.229788T>C
Gene: PRH1, proline rich protein HaeIII subfamily 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PRH1 transcript variant 1 NM_001291314.2:c.-126+159…

NM_001291314.2:c.-126+15938A>T

N/A Intron Variant
PRH1 transcript variant 2 NM_001291315.2:c.36+15938…

NM_001291315.2:c.36+15938A>T

N/A Intron Variant
PRH1 transcript variant 4 NM_001393989.1:c. N/A Genic Upstream Transcript Variant
PRH1 transcript variant 3 NR_133575.2:n. N/A Intron Variant
Gene: PRH1-TAS2R14, PRH1-TAS2R14 readthrough (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PRH1-TAS2R14 transcript NM_001316893.2:c.140+3700…

NM_001316893.2:c.140+3700A>T

N/A Intron Variant
Gene: TAS2R31, taste 2 receptor member 31 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TAS2R31 transcript NM_176885.2:c.254A>T Y [TAT] > F [TTT] Coding Sequence Variant
taste receptor type 2 member 31 NP_795366.2:p.Tyr85Phe Y (Tyr) > F (Phe) Missense Variant
TAS2R31 transcript NM_176885.2:c.254A>G Y [TAT] > C [TGT] Coding Sequence Variant
taste receptor type 2 member 31 NP_795366.2:p.Tyr85Cys Y (Tyr) > C (Cys) Missense Variant
Gene: PRH1-PRR4, PRH1-PRR4 readthrough (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PRH1-PRR4 transcript NR_037918.2:n. 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= A C
GRCh38.p14 chr 12 NC_000012.12:g.11031082= NC_000012.12:g.11031082T>A NC_000012.12:g.11031082T>C
GRCh37.p13 chr 12 NC_000012.11:g.11183681= NC_000012.11:g.11183681T>A NC_000012.11:g.11183681T>C
GRCh38.p14 chr 12 alt locus HSCHR12_3_CTG2 NT_187658.1:g.230087= NT_187658.1:g.230087T>A NT_187658.1:g.230087T>C
GRCh37.p13 chr 12 novel patch HG1133_PATCH NW_003571047.1:g.230098= NW_003571047.1:g.230098T>A NW_003571047.1:g.230098T>C
GRCh38.p14 chr 12 alt locus HSCHR12_2_CTG2 NW_003571050.1:g.229788= NW_003571050.1:g.229788T>A NW_003571050.1:g.229788T>C
TAS2R31 transcript NM_176885.2:c.254= NM_176885.2:c.254A>T NM_176885.2:c.254A>G
taste receptor type 2 member 31 NP_795366.2:p.Tyr85= NP_795366.2:p.Tyr85Phe NP_795366.2:p.Tyr85Cys
PRH1 transcript variant 1 NM_001291314.2:c.-126+15938= NM_001291314.2:c.-126+15938A>T NM_001291314.2:c.-126+15938A>G
PRH1 transcript variant 2 NM_001291315.2:c.36+15938= NM_001291315.2:c.36+15938A>T NM_001291315.2:c.36+15938A>G
PRH1-TAS2R14 transcript NM_001316893.2:c.140+3700= NM_001316893.2:c.140+3700A>T NM_001316893.2:c.140+3700A>G
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#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2748815581 Nov 08, 2017 (151)
2 GNOMAD ss2907335277 Nov 08, 2017 (151)
3 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 399230713 (NC_000012.12:11031081:T:A 1/140334)
Row 399230714 (NC_000012.12:11031081:T:C 2/140338)

- Apr 26, 2021 (155)
4 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 399230713 (NC_000012.12:11031081:T:A 1/140334)
Row 399230714 (NC_000012.12:11031081:T:C 2/140338)

- Apr 26, 2021 (155)
5 ALFA NC_000012.12 - 11031082 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
ss2748815581, ss2907335277 NC_000012.11:11183680:T:A NC_000012.12:11031081:T:A (self)
11024029644 NC_000012.12:11031081:T:A NC_000012.12:11031081:T:A (self)
11024029644 NC_000012.12:11031081:T:C NC_000012.12:11031081: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 rs1487896339

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