About: TPMT*3A Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • TPMT*3A Allele
rdfs:subClassOf
OMIM_Number
  • 187680
Semantic_Type
  • Gene or Genome
Preferred_Name
  • TPMT*3A Allele
UMLS_CUI
  • C1710318
Legacy_Concept_Name
  • TPMT-3A_Allele
FULL_SYN
  • TPMT, c.615G>C, c.874A>GSYNCI
  • TPMT*3A AllelePTNCI
  • TPMT-3A AlleleSYNCI
  • TPMT, A154T, Y240CSYNCI
Gene_Encodes_Product
  • Thiopurine S-Methyltransferase
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.NCI
DesignNote
  • Non-synonymous Coding SNP
  • Ethnicity Association: Caucasians
  • 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.
code
  • C45689
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