About: CYP2D6*42 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2D6*42 Allele
rdfs:subClassOf
OMIM_Number
  • 124030
GenBank_Accession_Number
  • NM_000106
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2D6*42 Allele
UMLS_CUI
  • C1707224
Legacy_Concept_Name
  • CYP2D6_42_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*42 AlleleSYNCI
  • CYP2D6*42 AllelePTNCI
  • CYP2D6, g.3259insGTSYNCI
  • CYP2D6*42SYNCI
DEFINITION
  • Human CYP2D6*42 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*42 protein. The CYP2D6*42 allele exhibits a two nucleotide insertion (g.3259insGT) that results in a frameshift during protein coding. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*42 protein.NCI
DesignNote
  • Ethnicity Association: African American
code
  • C46059
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