About: CYP2C19*1 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2C19*1 Allele
rdfs:subClassOf
OMIM_Number
  • 124020
GenBank_Accession_Number
  • NM_000769
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2C19*1 Allele
PubMedID_Primary_Reference
  • 12464799
  • 2009263
  • 7487078
UMLS_CUI
  • C1707180
SNP_ID
  • rs3758581
Legacy_Concept_Name
  • CYP2C19_1_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*1 AlleleSYNCI
  • CYP2C19, I331VSYNCI
  • CYP2C19*1 AllelePTNCI
  • CYP2C19, c.991A>GSYNCI
  • CYP2C19, wild-typeSYNCI
  • CYP2C19*1SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2C19
DEFINITION
  • Human CYP2C19*1 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*1 protein. There are multiple haplotypes of this allele. The nucleotide sequence of CYP2C19*1A is identical to that of the wild-type allele and exhibits no mutations. CYP2C19*1B and CYP2C19*1C both exhibit a SNP (c.991A>G) in exon 7 that results in an I331V coding change. This alteration in protein sequence has no effect on the enzymatic activity of the corresponding cytochrome P450 2C19*1 proteins.NCI
code
  • C45598
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