About: CNTNAP2 wt 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
  • CNTNAP2 wt Allele
rdfs:subClassOf
OMIM_Number
  • 604569
GenBank_Accession_Number
  • AF193613
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CNTNAP2 wt Allele
UMLS_CUI
  • C2347280
EntrezGene_ID
  • 26047
Legacy_Concept_Name
  • CNTNAP2_wt_Allele
HGNC_ID
  • HGNC:13830
FULL_SYN
  • DKFZp586C1619SYNCI
  • Contactin Associated Protein-Like 2 wt AlleleSYNCI
  • CDFESYNCI
  • NRXN4SYNCI
  • CNTNAP2 wt AllelePTNCI
  • CASPR2SYNCI
DEFINITION
  • Human CNTNAP2 wild-type allele is located within 7q35-q36 and is approximately 2305 kb in length. This allele, which encodes contactin associated protein-like 2, may play a role in axonal organization. Mutations in this gene are associated with cortical dysplasia-focal epilepsy syndrome and may be involved in autism and the DFNB13 form of nonsyndromic deafness.NCISwissProt, OMIM and Entrez Gene
code
  • C73462
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