About: CYP2D6*4 Allele     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2D6*4 Allele
rdfs:subClassOf
OMIM_Number
  • 124030
GenBank_Accession_Number
  • NM_000106
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2D6*4 Allele
UMLS_CUI
  • C1707226
Legacy_Concept_Name
  • CYP2D6_4_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*4 AlleleSYNCI
  • CYP2D6, K29-1SYNCI
  • CYP2D6*4 AllelePTNCI
  • CYP2D6, g.1846G>ASYNCI
  • CYP2D6BSYNCI
  • CYP2D6*4SYNCI
  • CYP2D6(B)SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2D6
DEFINITION
  • Human CYP2D6*4 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*4 protein. The CYP2D6*4 allele exhibits a clinically-relevant SNP (g.1846G>A) at the consensus sequence of the splice site of intron 3 that results in a premature stop codon. This alteration yields a truncated cytochrome P450 2D6*4 protein that is enzymatically inactive.NCI
DesignNote
  • Ethnicity Association: Asian; African American; Black African; Caucasian; Middle Eastern
code
  • C45620
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