About: CYP2D6*19 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2D6*19 Allele
rdfs:subClassOf
OMIM_Number
  • 124030
GenBank_Accession_Number
  • NM_000106
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2D6*19 Allele
PubMedID_Primary_Reference
  • 9241659
UMLS_CUI
  • C1707215
Legacy_Concept_Name
  • CYP2D6_19_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*19 AlleleSYNCI
  • CYP2D6*19 AllelePTNCI
  • CYP2D6*19SYNCI
  • CYP2D6, g.2539delAACTSYNCI
DEFINITION
  • Human CYP2D6*19 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*19 protein. The CYP2D6*19 allele exhibits a four nucleotide deletion (g.2539delAACT) that results in a frameshift during protein coding. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*19 protein.NCI
DesignNote
  • Ethnicity Association: Caucasian
code
  • C46051
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