rs10264272
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 99665212 |
| Gene | CYP3A5, ZSCAN25 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10264272 |
| dbSNP (classic) | rs10264272 |
| ClinGen | rs10264272 |
| ebi | rs10264272 |
| HLI | rs10264272 |
| Exac | rs10264272 |
| Gnomad | rs10264272 |
| Varsome | rs10264272 |
| LitVar | rs10264272 |
| Map | rs10264272 |
| PheGenI | rs10264272 |
| Biobank | rs10264272 |
| 1000 genomes | rs10264272 |
| hgdp | rs10264272 |
| ensembl | rs10264272 |
| geneview | rs10264272 |
| scholar | rs10264272 |
| rs10264272 | |
| pharmgkb | rs10264272 |
| gwascentral | rs10264272 |
| openSNP | rs10264272 |
| 23andMe | rs10264272 |
| SNPshot | rs10264272 |
| SNPdbe | rs10264272 |
| MSV3d | rs10264272 |
| GWAS Ctlg | rs10264272 |
| GMAF | 0.045 |
| Max Magnitude | 2.5 |
| ? | (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 18341681
] Graft rejection: pharmacogenetic analysis or drug anamnesis?
[PMID 18825162] Prediction of CYP3A4 enzyme activity using haplotype tag SNPs in African Americans.
[PMID 20354687] Explaining variability in ciclosporin exposure in adult kidney transplant recipients.
[PMID 20459744] Cyclophosphamide-metabolizing enzyme polymorphisms and survival outcomes after adjuvant chemotherapy for node-positive breast cancer: a retrospective cohort study.
[PMID 24427273] Global Pharmacogenomics: Distribution of CYP3A5 Polymorphisms and Phenotypes in the Brazilian Population
[PMID 23133420] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.
