TPMT*3A Allele

Preferred Label : TPMT*3A Allele;

NCIt synonyms : TPMT, c.615G C, c.874A G; TPMT-3A Allele; TPMT, A154T, Y240C;

NCIt definition : Human TPMT*3A 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*3A allele exhibits two clinically-relevant SNPs (c.615G C and c.874A G) in that results in coding changes (A154T and Y240C). Together, these alterations abolish the enzymatic activity of the protein encoded by this allelic variant.;

NCIt note : Non-synonymous Coding SNP; The locations of the SNPs within this allelic variant are reported in the literature to be at nucleotides 460 and 719. These numbers are in reference to the start of the open reading frame of the cDNA sequence. Relative to the start of the cDNA sequence, these SNPs are located at nucleotides 615 and 874.; Ethnicity Association: Caucasians;

Details

Origin ID

C45689;

UMLS CUI

C1710318;

OMIM relation
- Thiopurine s-methyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
allele_has_abnormality
- Transition Mutation [NCIt concept]
allele_has_activity
- Absence of Biochemical Activity [NCIt concept]
allele_in_chromosomal_location
- 6p22.3 [NCIt concept]
gene_associated_with_disease
- Thiopurine Methyltransferase Deficiency [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Drug Metabolism [NCIt concept]
- Methylation [NCIt concept]
- Nucleotide Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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