About: CYP2D6*6 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2D6*6 Allele
rdfs:subClassOf
OMIM_Number
  • 124030
GenBank_Accession_Number
  • NM_000106
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2D6*6 Allele
UMLS_CUI
  • C1707228
Legacy_Concept_Name
  • CYP2D6_6_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*6 AlleleSYNCI
  • CYP2D6*6 AllelePTNCI
  • CYP2D6, g.1707delTSYNCI
  • CYP2D6TSYNCI
  • CYP2D6*6SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2D6
DEFINITION
  • Human CYP2D6*6 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*6 protein. The CYP2D6*6 allele exhibits a single nucleotide deletion (g.1707delT) in exon 3 that results in a frameshift and generates a stop codon located one codon after the deletion. This alteration yields a truncated CYP2D6*6 protein that is enzymatically inactive.NCI
DesignNote
  • Ethnicity Association: Caucasian; Middle Eastern
code
  • C45622
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