TPMT-2 Allele

Cancer Terms -> Gene -> Enzyme Gene -> Transferase Gene -> Methyltransferase Gene -> TPMT Gene -> TPMT-2 Allele

TPMT-2 Allele Definition

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.

TPMT-2 Allele Synonyms

TPMT*2 Allele, TPMT, A80P, TPMT, c.393C>G, TPMT-2 Allele

Terms in TPMT-2 Allele category

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