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rs12934922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;T) 1 Reduced conversion of beta-carotene to retinol
(T;T) 1 Reduced conversion of beta-carotene to retinol
ReferenceGRCh38 38.1/141
Chromosome16
Position81268089
GeneBCMO1
is asnp
is mentioned by
dbSNPrs12934922
ebirs12934922
HLIrs12934922
Exacrs12934922
Varsomers12934922
Maprs12934922
PheGenIrs12934922
hapmaprs12934922
1000 genomesrs12934922
hgdprs12934922
ensemblrs12934922
gopubmedrs12934922
geneviewrs12934922
scholarrs12934922
googlers12934922
pharmgkbrs12934922
gwascentralrs12934922
openSNPrs12934922
23andMers12934922
23andMe allrs12934922
SNP Nexus

SNPshotrs12934922
SNPdbers12934922
MSV3drs12934922
GWAS Ctlgrs12934922
GMAF0.2691
Max Magnitude1
? (A;A) (A;T) (T;T) 28

[PMID 19103647] rs12934922 (R267S) and rs7501331 (A379V) double mutant have a reduced catalytic activity of beta-carotene by 57%. Female volunteers carrying the T variant of rs7501331 (379V) had a 32% lower ability to convert Beta-carotene, and those carrying at least one T in both SNPs show a 69% lower ability to convert Beta-carotene into retinyl esters.

rs7501331: the frequency of the wild-type C allele and variant T allele was 76 and 24%, respectively; 56% of the population was CC wild-type genotype, and 39% was heterozygote CT with the TT variant present in 5% of the population.

rs12934922: the frequency of the wild-type A allele and variant T allele was 58 and 42%, respectively; 38% of the population was AA wild-type genotype, 40% was heterozygote AT, and 22% was TT homozygote


[PMID 19557453OA-icon.png] beta-Carotene conversion products and their effects on adipose tissue.


[PMID 19844255OA-icon.png] Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.


[PMID 22113863] Single nucleotide polymorphisms upstream from the beta-carotene 15,15'-monoxygenase gene influence provitamin A conversion efficiency in female volunteers.


GET Evidence
BCMO1-R267S
aa_change Arg267Ser
aa_change_short R267S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.3562
summary