Rs72547513
From SNPedia
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72547513 |
| PheGenI | rs72547513 |
| nextbio | rs72547513 |
| hapmap | rs72547513 |
| 1000 genomes | rs72547513 |
| hgdp | rs72547513 |
| ensembl | rs72547513 |
| gopubmed | rs72547513 |
| geneview | rs72547513 |
| scholar | rs72547513 |
| rs72547513 | |
| pharmgkb | rs72547513 |
| gwascentral | rs72547513 |
| openSNP | rs72547513 |
| 23andMe | rs72547513 |
| 23andMe all | rs72547513 |
| SNP Nexus | |
| SNPshot | rs72547513 |
| SNPdbe | rs72547513 |
| MSV3d | rs72547513 |
| Gene | CYP1A2 |
| Chromosome | 15 |
| Orientation | plus |
| Position | 75042637 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 2 |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | ||
| (A;C) | 2 | |
| (C;C) |
rs72547513, also known as 558C>A or F186L, is a SNP in the CYP1A2 gene.
23andMe and opensnp show A as more common. dbSNP shows C as the reference, and A as the variant, but doesn't have any population frequency information. [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.
