About: CYP2C19*8 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2C19*8 Allele
rdfs:subClassOf
OMIM_Number
  • 124020
GenBank_Accession_Number
  • NM_000769
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2C19*8 Allele
PubMedID_Primary_Reference
  • 10411572
UMLS_CUI
  • C1707187
Legacy_Concept_Name
  • CYP2C19_8_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*8 AlleleSYNCI
  • CYP2C19, W120RSYNCI
  • CYP2C19*8 AllelePTNCI
  • CYP2C19, c.358T>CSYNCI
  • CYP2C19*8SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2C19
DEFINITION
  • Human CYP2C19*8 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*8 protein. The CYP2C19*8 allele exhibits a clinically-relevant SNP (c.358T>C) in exon 3 that results in a W120R coding change. This alteration in protein sequence severely decreases the enzymatic activity of the cytochrome P450 2C19*8 protein.NCI
DesignNote
  • Ethnicity Association: Caucasian
code
  • C46010
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