rs56411402
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2.5 | CYP3A5*4 homozygote; nonexpressor for CYP3A5 |
| (C;T) | 2 | carrier of one CYP3A5*4 allele |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 99665237 |
| Gene | CYP3A5, ZSCAN25 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56411402 |
| dbSNP (classic) | rs56411402 |
| ClinGen | rs56411402 |
| ebi | rs56411402 |
| HLI | rs56411402 |
| Exac | rs56411402 |
| Gnomad | rs56411402 |
| Varsome | rs56411402 |
| LitVar | rs56411402 |
| Map | rs56411402 |
| PheGenI | rs56411402 |
| Biobank | rs56411402 |
| 1000 genomes | rs56411402 |
| hgdp | rs56411402 |
| ensembl | rs56411402 |
| geneview | rs56411402 |
| scholar | rs56411402 |
| rs56411402 | |
| pharmgkb | rs56411402 |
| gwascentral | rs56411402 |
| openSNP | rs56411402 |
| 23andMe | rs56411402 |
| SNPshot | rs56411402 |
| SNPdbe | rs56411402 |
| MSV3d | rs56411402 |
| GWAS Ctlg | rs56411402 |
| Max Magnitude | 2.5 |
Cytochrome P450 3A (CYP3A) family of isoenzymes are responsible for metabolizing over half of prescribed drugs, thus determining absence of CYP3A expression is important for optimizing medical treatments. CYP3A5*4 is a rare variant in Chinese, Caucasians and Indians which may therefore not warrant screening for. [PMID 12324482]
At least one CYP3A5*1 allele is needed for expressing CYP3A5 protein, with normal levels up to half of CYP3A present in the liver. Allele variant *4 is identified by rs56411402 (14665A > G, p.Gln200Arg or Q200R) in exon 8. [PMID 11279519] Note the reverse orientation; the most common form of this SNP is rs56411402(T), which is the same as '14665A' in publications.
The rs56411402(C) allele defines the CYP3A5*4 variant, which is nonfunctional.
[PMID 24699256
] Differential expression of cytochrome p450 enzymes in normal and tumor tissues from childhood rhabdomyosarcoma.
[PMID 24604039] Distribution of genetic polymorphisms of genes encoding drug metabolizing enzymes & drug transporters -- a review with Indian perspective.
[PMID 21265876] Genetic polymorphisms of drug-metabolizing phase I enzymes CYP2E1, CYP2A6 and CYP3A5 in South Indian population.
[PMID 12433824] Pharmacokinetics of midazolam and 1'-hydroxymidazolam in Chinese with different CYP3A5 genotypes.
[PMID 12324482] CYP3A5 variant allele frequencies in Dutch Caucasians.
[PMID 11502729] Genetic polymorphism of cytochrome P450 3A5 in Chinese.
[PMID 11279519] Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression.
