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- NCIT_C46061 IAO_0000115 "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." @default.
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- NCIT_C46061 NCIT_P108 "TPMT*V2 Allele" @default.
- NCIT_C46061 NCIT_P207 "C1710320" @default.
- NCIT_C46061 NCIT_P366 "TPMT_V2_Allele" @default.
- NCIT_C46061 NCIT_P96 "Thiopurine S-Methyltransferase" @default.
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- NCIT_C46061 hasExactSynonym "TPMT*V2 Allele" @default.
- NCIT_C46061 hasExactSynonym "TPMT-V2" @default.
- NCIT_C46061 type Class @default.
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