Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0250 Transporter Info | ||||
| Gene Name | SLC29A4 | ||||
| Protein Name | Equilibrative nucleoside transporter 4 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs3889348 | ||||
| Site of GPD | chr7:5298844 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | A>C / A>G | ||||
| Minor Allele Frequency | A=0.2620/518 (Global) | ||||
| Allele G | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Metformin | N.A. | Gastrointestinal Toxicity | Allele G is associated with increased severity of gastrointestinal toxicity when treated with metformin in people with Diabetes Mellitus, Type 2 as compared to allele A. | [ 1] | |
| Genetic Polymorphism | rs10234709 | ||||
| Site of GPD | chr7:5335911 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>A / C>T | ||||
| Minor Allele Frequency | C=0.6900/1365 (Global) | ||||
| Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Metformin | N.A. | Gastrointestinal Toxicity | Allele A is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C. | [ 2] | |
| References | |||||
| 1 | PMAT variant rs3889348 is associated with metformin-induced gastrointestinal among Chinese Type 2 diabetes patients. Pharmacogenomics. 2023 Jul;24(10):551-560. | ||||
| 2 | Using EHR-Linked Biobank Data to Study Metformin Pharmacogenomics. Stud Health Technol Inform. 2015;210:914-8. | ||||
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