Entrez gene ID | | 55212 |
Official gene symbol | | BBS7 |
Full name | | Bardet-Biedl syndrome 7 |
Aliases | | ,BBS2L1,FLJ10715, |
Gene summary | | Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq] |
Location | | Chromosome: 4 Locus: 4q27 |
Gene position | | 122791642 - 122745635 Map Viewer |
Gene orientation | | minus |
Gene size | | 46008 bp |
Gene sequence |
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OMIM ID | | 607590 |
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