Bardet-Biedl syndrome 7 [Source:HGNC Symbol;Acc:18758]
BBS2L1, FLJ10715
Chromosome 4: 122,782,449-122,791,642 reverse strand.
This transcript has 4 exons, is associated with 3795 variant alleles and maps to 151 oligo probes.
This transcript is a product of gene ENSG00000138686.5 Show transcript tableHide transcript table
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 | 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 | - | - | - |