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rs10264272

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 normal
(C;T) 0 carrier of a silent polymorphism in CYP3A5
(T;T) 2.5 CYP3A5*6 homozygote; nonexpressor for CYP3A5
ReferenceGRCh38 38.1/141
Chromosome7
Position99665212
GeneCYP3A5, ZSCAN25
is asnp
is mentioned by
dbSNPrs10264272
ebirs10264272
HLIrs10264272
Exacrs10264272
Varsomers10264272
Maprs10264272
PheGenIrs10264272
hapmaprs10264272
1000 genomesrs10264272
hgdprs10264272
ensemblrs10264272
gopubmedrs10264272
geneviewrs10264272
scholarrs10264272
googlers10264272
pharmgkbrs10264272
gwascentralrs10264272
openSNPrs10264272
23andMers10264272
23andMe allrs10264272
SNP Nexus

SNPshotrs10264272
SNPdbers10264272
MSV3drs10264272
GWAS Ctlgrs10264272
GMAF0.045
Max Magnitude2.5
? (C;C) (C;T) (T;T) 28
rs10264272, also known as 14690G>A, is a SNP in the CYP3A5 gene.

[PMID 21806386] indicates that this corresponds with CYP3A5*6, however, this seems doubtful. CYP3A5 allele nomenclature found at http://www.cypalleles.ki.se/cyp3a5.htm indicates that CYP3A5*6 (also known as 14690G>A) is a splicing defect resulting in essentially no activity in the gene. This does not correspond with dbSNP, which indicates that is a nucleotide substition (624G-A) which only results in a "silent" substitution of AAG (Lysine) to AAA (Lysine).



[PMID 21806386] Pharmacogenetics of calcineurin inhibitors in Brazilian renal transplant patients


[PMID 18341681OA-icon.png] Graft rejection: pharmacogenetic analysis or drug anamnesis?


[PMID 18825162OA-icon.png] Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans.


[PMID 20354687OA-icon.png] Explaining variability in ciclosporin exposure in adult kidney transplant recipients.


[PMID 20459744OA-icon.png] Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study.


[PMID 24427273OA-icon.png] Global Pharmacogenomics: Distribution of CYP3A5 Polymorphisms and Phenotypes in the Brazilian Population


[PMID 23133420OA-icon.png] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.