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rs56411402

From SNPedia

Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome7
Position99665237
GeneCYP3A5, ZSCAN25
is asnp
is mentioned by
dbSNPrs56411402
ebirs56411402
HLIrs56411402
Exacrs56411402
Varsomers56411402
Maprs56411402
PheGenIrs56411402
hapmaprs56411402
1000 genomesrs56411402
hgdprs56411402
ensemblrs56411402
gopubmedrs56411402
geneviewrs56411402
scholarrs56411402
googlers56411402
pharmgkbrs56411402
gwascentralrs56411402
openSNPrs56411402
23andMers56411402
23andMe allrs56411402
SNP Nexus

SNPshotrs56411402
SNPdbers56411402
MSV3drs56411402
GWAS Ctlgrs56411402
Max Magnitude2.5
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 24699256OA-icon.png] Differential expression of cytochrome p450 enzymes in normal and tumor tissues from childhood rhabdomyosarcoma.

[PMID 24604039OA-icon.png] 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.