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AttributesValues
rdf:type
rdfs:label
  • NAT2*7 Allele
rdfs:subClassOf
OMIM_Number
  • 243400
Semantic_Type
  • Gene or Genome
Preferred_Name
  • NAT2*7 Allele
UMLS_CUI
  • C1881942
Legacy_Concept_Name
  • NAT2_3_Allele
FULL_SYN
  • N-Acetyltransferase 2 (Arylamine N-Acetyltransferase)*7 AlleleSYNCI
  • NAT2*7 AllelePTNCI
DEFINITION
  • Human NAT2*7 allele is a designation for a group of variant alleles of the NAT2 gene, which is located in the vicinity of 8p22 and is approximately 10 kb in length. The wild-type allele, which encodes arylamine N-acetyltransferase 2 protein, is involved in the activation/deactivation of arylamine and hydrazine compounds. This group of allelic variants of the NAT2 gene all exhibit a SNP (c. 857G>A) that results in a G286E coding change and is associated with decreased enzymatic activity of the encoded protein.NCI
code
  • C67345
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