About: CYP2D6*7 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2D6*7 Allele
rdfs:subClassOf
OMIM_Number
  • 124030
GenBank_Accession_Number
  • NM_000106
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2D6*7 Allele
PubMedID_Primary_Reference
  • 7845481
UMLS_CUI
  • C1707229
Legacy_Concept_Name
  • CYP2D6_7_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*7 AlleleSYNCI
  • CYP2D6, H324PSYNCI
  • CYP2D6*7 AllelePTNCI
  • CYP2D6, g.2935A>CSYNCI
  • CYP2D6ESYNCI
  • CYP2D6*7SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2D6
DEFINITION
  • Human CYP2D6*7 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*7 protein. The CYP2D6*7 allele exhibits a clinically-relevant SNP (g.2935A>C) that results in a H324P coding change. This alteration in amino acid sequence causes an alteration of the 3D protein structure in close vicinity to the active site that abolishes the enzymatic activity of the cytochrome P450 2D6*7 protein.NCI
DesignNote
  • Ethnicity Association: Caucasian; Middle Eastern
code
  • C46042
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