Bardet-Biedl syndrome 7 [Source:HGNC Symbol;Acc:18758]
BBS2L1, FLJ10715
Chromosome 4: 122,745,595-122,791,652 reverse strand.
GRCh37:CM000666.1
This gene has 6 transcripts (splice variants) and is associated with 4 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000264499.4 | BBS7-001 | 3752 | 715aa | ENSP00000264499.4 | Protein coding | CCDS3724 | H0Y973 Q8IWZ6 | NM_176824.2 | Ensembl Canonical, GENCODE basic, |
ENST00000506636.1 | BBS7-003 | 2570 | 672aa | ENSP00000423626.1 | Protein coding | CCDS54799 | Q8IWZ6 | NM_018190.3 | GENCODE basic, |
ENST00000507814.1 | BBS7-007 | 734 | 138aa | ENSP00000423250.1 | Protein coding | H0Y973 | - | CDS 5' incomplete, | |
ENST00000505692.1 | BBS7-005 | 752 | No protein | - | Retained intron | - | - | - | |
ENST00000502444.1 | BBS7-004 | 725 | No protein | - | Retained intron | - | - | - | |
ENST00000508536.1 | BBS7-006 | 164 | No protein | - | Retained intron | - | - | - |