Rs72547513

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Orientationplus
Geno Mag Summary
(A;A)
(A;C) 2
(C;C)
ReferenceGRCh38 38.1/141
Chromosome15
Position74750296
GeneCYP1A2
is asnp
is mentioned by
dbSNPrs72547513
PheGenIrs72547513
nextbiors72547513
hapmaprs72547513
1000 genomesrs72547513
hgdprs72547513
ensemblrs72547513
gopubmedrs72547513
geneviewrs72547513
scholarrs72547513
googlers72547513
pharmgkbrs72547513
gwascentralrs72547513
openSNPrs72547513
23andMers72547513
23andMe allrs72547513
SNP Nexus

SNPshotrs72547513
SNPdbers72547513
MSV3drs72547513
Max Magnitude2
rs72547513, also known as 558C>A or F186L, is a SNP in the CYP1A2 gene. In a CYP database, it is listed as defining the CYP1A2*11 allele.

23andMe and opensnp show A as more common. dbSNP shows C as the reference, and A as the variant, but no population frequency information is provided. This SNP was originally observed in a Japanese population at a frequency of 0.3%; in an Italian study of 500 healthy individuals, it was not observed.[PMID 17603224]

[PMID 14563787] claims that A is the variant, and that it defined the CYP1A2*11 allele with a Vmax approximately 5% of that of the CYP1A2 wild type, and reduced enzymatic activity. Two subsequent theoretical studies provide hypotheses for why this change results in lowered activity.[PMID 21598960],[PMID 24464701]