Rs10246939

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Orientationplus
Geno Mag Summary
(C;C) 0.1 can taste bitter
(C;T) 0.1 can taste bitter
(T;T) 1.1 possibly unable to taste bitterness
ReferenceGRCh38 38.1/141
Chromosome7
Position141972804
GeneMGAM, TAS2R38
is asnp
is mentioned by
dbSNPrs10246939
Exacrs10246939
PheGenIrs10246939
nextbiors10246939
hapmaprs10246939
1000 genomesrs10246939
hgdprs10246939
ensemblrs10246939
gopubmedrs10246939
geneviewrs10246939
scholarrs10246939
googlers10246939
pharmgkbrs10246939
gwascentralrs10246939
openSNPrs10246939
23andMers10246939
23andMe allrs10246939
SNP Nexus

SNPshotrs10246939
SNPdbers10246939
MSV3drs10246939
GMAF0.4509
Max Magnitude1.1
? (C;C) (C;T) (T;T) 28
rs10246939 is one of three SNPs that form the main haplotypes behind the ability to perceive as bitter the taste of the compound phenylthiocarbamide (PTC) and similar molecules in foods (like cabbage and raw broccoli) or drinks (like coffee and dark beers).

The rs10246939(C) allele, in the orientation shown in dbSNP, is the "tasting" allele, and it is dominant to the "non-tasting" allele rs10246939(T), so having one copy is enough to have the bitter tasting ability. If you are a "taster", you're also likely to carry at least one rs713598(G) and one rs1726866(C) allele since, along with rs10246939(C), these three SNPs form the most common tasting haplotype. If you lack these alleles, you're quite likely (~80%) to be a non-taster of bitterness, meaning that foods that may taste bitter to others taste far less bitter to you.[PMID 12595690]

Neighborrs1726866
Distance101
OMIM607751
DescTASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38
Variant0003
Relatedalso
[PMID 20675712OA-icon.png] The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12


ClinVar
Risk rs10246939(C;C)
Alt rs10246939(C;C)
Reference rs10246939(T;T)
Significance Drug-response
Disease Phenylthiocarbamide tasting
Variation info
Gene TAS2R38
CLNDBN Phenylthiocarbamide tasting
Reversed 0
HGVS NC_000007.13:g.141672604T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000003040.1,



[PMID 18248681OA-icon.png] Prevalence of common disease-associated variants in Asian Indians.


[PMID 18834969OA-icon.png] A combinatorial approach to detecting gene-gene and gene-environment interactions in family studies.


[PMID 19779476OA-icon.png] Sex differences in the effects of inherited bitter thiourea sensitivity on body weight in 4-6-year-old children.


GET Evidence
TAS2R38-I296V
aa_change Ile296Val
aa_change_short I296V
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.463376
summary This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.



[PMID 24083639] Variations in Bitter-Taste Receptor Genes, Dietary Intake, and Colorectal Adenoma Risk


[PMID 23133589OA-icon.png] Bitter taste receptor polymorphisms and human aging.