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CEP290 - centrosomal protein 290

  • Synonym(s) : 3H11Ag, Bardet-Biedl syndrome 14, BBS14, cancer/testis antigen 87, CT87, FLJ13615, JBTS5, Joubert syndrome 5, KIAA0373, LCA10, Meckel syndrome, type 4, MKS4, nephrocystin-6, NPHP6, POC3, POC3 centriolar protein homolog (Chlamydomonas), rd16, SLSN6
  • Previous symbols and names : centrosomal protein 290kDa
  • Type : gene with protein product
  • Chromosomal location : 12q21.32
  • OMIM: 610142
  • HGNC: 29021
  • UniProtKB: O15078
  • Genatlas: CEP290
  • Ensembl: ENSG00000198707
  • IUPHAR-DB: -
  • Reactome: O15078
  • LOVD: CEP290

Diseases list

  : Assessed

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