rs72547513(A;A)
From SNPedia
| Is a | genotype |
| of | rs72547513 |
| Gene | CYP1A2 |
| Chromosome | 15 |
| Position | 74,750,296 |
| mentioned | by |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | ||
| (A;C) | 2 | |
| (C;C) |
also known as F186L, Phe186Leu, c.558C>A, g.32755C>A, g.45833194C>A
According to the literature, this is the cause of the CYP1A2*11 homozygote which produces 5% Vmax of the normal enzyme level. However 23andMe data shows that A is more common.
[PMID 14563787] in allele CYP1A2*11; drastic reduction in O-deethylation of phenacetin and 7-ethoxyresorufin; has a Vmax of approximately 5% of that of the wild-type and 5-fold lower Km value.
