About: CYP1A2*7 Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • CYP1A2*7 Allele
rdfs:subClassOf
OMIM_Number
  • 124060
GenBank_Accession_Number
  • NM_000761
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP1A2*7 Allele
PubMedID_Primary_Reference
  • 12919186
UMLS_CUI
  • C1707175
Legacy_Concept_Name
  • CYP1A2_7_Allele
FULL_SYN
  • Cytochrome P450, Family 1, Subfamily A, Polypeptide 2*7 AlleleSYNCI
  • CYP1A2*7 AllelePTNCI
  • CYP1A2, g.3534G>ASYNCI
  • CYP1A2*7SYNCI
Gene_Encodes_Product
  • Cytochrome P450 1A2
DEFINITION
  • Human CYP1A2*7 allele is located within 15q24 and is approximately 8 kb in length. This allele, a variant form of the CYP1A2 wild-type allele, encodes cytochrome P450 1A2*7 protein. The CYP1A2*7 allele exhibits a clinically-relevant SNP (g.3534G>A) in the 5' splice-site consensus sequence of intron 6 that is predicted to result in abnormal mRNA splicing. This alteration decreases the in vivo enzymatic activity of the cytochrome P450 1A2*7 protein.NCI
DesignNote
  • Ethnicity Association: Caucasian
code
  • C46038
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 46 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software