Gene Protein Transcript Blast result Transcript specific probe-cluster
 
Gene information for BBS7 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID55212
Official gene symbolBBS7
Full nameBardet-Biedl syndrome 7
Aliases,BBS2L1,FLJ10715,
Gene summaryMutations 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]
LocationChromosome: 4   Locus: 
Gene position122791642 - 122745635  Map Viewer
OMIM ID607590