Description
Bardet-Biedl syndrome 12 [Source:HGNC Symbol;Acc:26648]
Gene Synonyms
C4orf24, FLJ35630, FLJ41559
Location
Chromosome 4: 123,653,857-123,666,098 forward strand.
GRCh37:CM000666.1
About this gene
This gene has 3 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000542236.1 | BBS12-201 | 3431 | 710aa | ENSP00000438273.1 | Protein coding | CCDS3728 | C9J8H7 Q6ZW61 | NM_001178007.1 | Ensembl Canonical, GENCODE basic, |
ENST00000314218.3 | BBS12-001 | 3244 | 710aa | ENSP00000319062.3 | Protein coding | CCDS3728 | C9J8H7 Q6ZW61 | NM_152618.2 | GENCODE basic, |
ENST00000433287.1 | BBS12-002 | 859 | 191aa | ENSP00000398912.1 | Protein coding | C9J8H7 | - | CDS 3' incomplete, |