TPMT*2 Allele

Human TPMT*2 allele is located in the vicinity of 6p22.3 and is approximately 26 kb in length. This allele, a variant form of the TPMT wild-type allele, encodes thiopurine S-methyltransferase protein. TPMT*2 allele exhibits a clinically-relevant SNP (c.393G>C) that results in an A80P coding change. This alteration in protein sequence severely decreases the enzymatic activity of the protein encoded by this allelic variant. (NCI Thesaurus)

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