About: TPMT*3C Allele     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • TPMT*3C Allele
rdfs:subClassOf
OMIM_Number
  • 187680
Semantic_Type
  • Gene or Genome
Preferred_Name
  • TPMT*3C Allele
UMLS_CUI
  • C1710319
Legacy_Concept_Name
  • TPMT-3C_Allele
FULL_SYN
  • TPMT, Y240CSYNCI
  • TPMT, c.874A>GSYNCI
  • TPMT*3C AllelePTNCI
  • TPMT-3CSYNCI
Gene_Encodes_Product
  • Thiopurine S-Methyltransferase
DEFINITION
  • 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.NCI
DesignNote
  • Ethnicity Association: African-Americans
  • 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.
code
  • C46062
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 78 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software