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  • Human TPMT*V2 allele is a variant form of the TPMT Gene (TPMT Family), located at chromosome 6p22.3, which encodes Thiopurine S-Methyltransferase. Some TPMT alleles contain variable numbers of 17/18 bp tandem repeats (VNTR), within the GC-rich 5\'-flanking TPMT promoter region that modulate the level of TPMT enzyme activity (to a smaller extent than ORF-based SNP effects). TPMT*V2 contains 2 VNTR. A decrease in gene expression is seen with increasing repeat numbers.
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