TPMT-3C Allele
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TPMT-3C Allele Definition
Human TPMT*3C 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*3C allele exhibits a clinically-relevant SNP (c.874A>G) that results in an Y240C coding change. This alteration in protein sequence decreases the enzymatic activity of the protein encoded by this allelic variant.
TPMT-3C Allele Synonyms
TPMT*3C Allele, TPMT, Y240C, TPMT, c.874A>G, TPMT-3C
Terms in TPMT-3C Allele category
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