Entrez gene ID | | 582 |
Official gene symbol | | BBS1 |
Full name | | Bardet-Biedl syndrome 1 |
Aliases | | ,BBS2L2,FLJ23590,MGC126183,MGC126184,MGC51114, |
Gene summary | | Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q13.1 |
Gene position | | 66278119 - 66301084 Map Viewer |
Gene orientation | | plus |
Gene size | | 22966 bp |
Gene sequence |
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OMIM ID | | 209901 |
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