General Information of Drug Transporter (DT)
DT ID DTD0041 Transporter Info
Gene Name ABCA3
Protein Name ATP-binding cassette sub-family A member 3
Gene ID
21
UniProt ID
Q99758
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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