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- NCIT_C46062 IAO_0000115 "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." @default.
- NCIT_C46062 NCIT_NHC0 "C46062" @default.
- NCIT_C46062 NCIT_P100 "187680" @default.
- NCIT_C46062 NCIT_P106 "Gene or Genome" @default.
- NCIT_C46062 NCIT_P108 "TPMT*3C Allele" @default.
- NCIT_C46062 NCIT_P207 "C1710319" @default.
- NCIT_C46062 NCIT_P366 "TPMT-3C_Allele" @default.
- NCIT_C46062 NCIT_P96 "Thiopurine S-Methyltransferase" @default.
- NCIT_C46062 NCIT_P98 "Ethnicity Association: African-Americans" @default.
- NCIT_C46062 NCIT_P98 "The location of the SNP within this allelic variant is reported in the literature to be at nucleotide 719. This number is in reference to the start of the open reading frame of the cDNA sequence. Relative to the start of the cDNA sequence, this SNP is located at nucleotide 874." @default.
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- NCIT_C46062 hasExactSynonym "TPMT*3C Allele" @default.
- NCIT_C46062 hasExactSynonym "TPMT, Y240C" @default.
- NCIT_C46062 hasExactSynonym "TPMT, c.874A>G" @default.
- NCIT_C46062 hasExactSynonym "TPMT-3C" @default.
- NCIT_C46062 type Class @default.
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