Detail Information of Genetic Polymorphisms
| General Information of Drug Transporter (DT) | |||||
|---|---|---|---|---|---|
| DT ID | DTD0116 Transporter Info | ||||
| Gene Name | SLC17A3 | ||||
| Protein Name | Sodium-dependent phosphate transport protein 4 | ||||
| Gene ID | |||||
| UniProt ID | |||||
| Genetic Polymorphisms of DT (GPD) | |||||
| Genetic Polymorphism | rs548987 | ||||
| Site of GPD | chr6:25869143 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>C | ||||
| Minor Allele Frequency | C=0.0980/439 (Global) | ||||
| Allele C | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Antihypertensive Drug | N.A. | Small Vessel Disease Subtype of Ischemic Stroke | Correlated with the small vessel disease subtype of ischemic stroke in Chinese population (compare with allele G) | [ 1] | |
| Genetic Polymorphism | rs34376145 | ||||
| Site of GPD | chr6:25850821 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>A / C>T | ||||
| Minor Allele Frequency | C=0.9980/1975 (Global) | ||||
| Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Bumetanide | N.A. | Juvenile Rheumatoid Arthritis | Allele A is associated with decreased transport of SLC17A3 when assayed with bumetanide in Xenopus oocytes as compared to allele C. | [ 2] | |
| Genetic Polymorphism | rs34902660 | ||||
| Site of GPD | chr6:25850874 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>A | ||||
| Minor Allele Frequency | C=0.9930/1965 (Global) | ||||
| Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Bumetanide | N.A. | Juvenile Rheumatoid Arthritis | Allele A is associated with decreased transport of SLC17A3 when assayed with bumetanide in Xenopus oocytes as compared to allele C. | [ 2] | |
| Genetic Polymorphism | rs11966370 | ||||
| Site of GPD | chr6:25849943 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | G>A | ||||
| Allele A | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Bumetanide | N.A. | Juvenile Rheumatoid Arthritis | Allele A is associated with decreased transport of SLC17A3 when assayed with bumetanide in Xenopus oocytes as compared to allele G. | [ 2] | |
| Genetic Polymorphism | rs56027330 | ||||
| Site of GPD | chr6:25850617 (GRCh38.p12) | ||||
| GPD Type | SNP | ||||
| Allele(s) in dbSNP | C>T | ||||
| Minor Allele Frequency | C=0.9310/1842 (Global) | ||||
| Allele T | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
| Bumetanide | N.A. | Juvenile Rheumatoid Arthritis | Allele T is associated with decreased transport of SLC17A3 when assayed with bumetanide in Xenopus oocytes as compared to allele C. | [ 2] | |
| References | |||||
| 1 | The homocysteine associated variant rs548987 of SLC17A3 confers susceptibility to ischemic stroke in Chinese population. J Neurol Sci. 2016 Nov 15;370:78-81. | ||||
| 2 | Functional analysis of human sodium-phosphate transporter 4 (NPT4/SLC17A3) polymorphisms. J Pharmacol Sci. 2011;115(2):249-53. | ||||
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