Detail Information of Genetic Polymorphisms
General Information of Drug Transporter (DT) | |||||
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DT ID | DTD0041 Transporter Info | ||||
Gene Name | ABCA3 | ||||
Protein Name | ATP-binding cassette sub-family A member 3 | ||||
Gene ID | |||||
UniProt ID | |||||
Genetic Polymorphisms of DT (GPD) | |||||
Genetic Polymorphism | rs13332514 | ||||
Site of GPD | chr16:2317335 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>A | ||||
Minor Allele Frequency | A=0.0873/391 (Global) | ||||
Allele T | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
N.A. | N.A. | Respiratory Distress Syndrome | Correlated with the chronic lung disease in very premature infants (compare with allele C) | [ 1] | |
Genetic Polymorphism | rs150929 | ||||
Site of GPD | chr16:2278649 (GRCh38.p12) | ||||
GPD Type | SNP | ||||
Allele(s) in dbSNP | G>A / G>C / G>T | ||||
Minor Allele Frequency | G=0.5190/1027 (Global) | ||||
Genotypes GG + GT | Click to Show/Hide the Full List of Affected Drugs: 1 Drugs in Total | ||||
Imatinib | N.A. | Hypertriglyceridemia | Genotypes GG + GT is associated with decreased response to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype TT. | [ 2] | |
References | |||||
1 | Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. Ann Med. 2008;40(1):56-65. | ||||
2 | Relationship between SLCO1B3 and ABCA3 polymorphisms and imatinib response in chronic myeloid leukemia patients. Hematology. 2015 Apr;20(3):137-42. |
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