Rs7501331

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Orientationplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 2 Reduced conversion of beta-carotene to retinol
(T;T) 2 Reduced conversion of beta-carotene to retinol
ReferenceGRCh38 38.1/141
Chromosome16
Position81280891
GeneBCMO1
is asnp
is mentioned by
dbSNPrs7501331
Exacrs7501331
PheGenIrs7501331
nextbiors7501331
hapmaprs7501331
1000 genomesrs7501331
hgdprs7501331
ensemblrs7501331
gopubmedrs7501331
geneviewrs7501331
scholarrs7501331
googlers7501331
pharmgkbrs7501331
gwascentralrs7501331
openSNPrs7501331
23andMers7501331
23andMe allrs7501331
SNP Nexus

SNPshotrs7501331
SNPdbers7501331
MSV3drs7501331
GMAF0.1621
Max Magnitude2
? (C;C) (C;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 21091228] Genetic variants in BCMO1 and CD36 are associated with plasma lutein concentrations and macular pigment optical density in humans.


[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-A379V
aa_change Ala379Val
aa_change_short A379V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.169176
summary