Description

Bardet-Biedl syndrome 7 [Source:HGNC Symbol;Acc:HGNC:18758]

Synonyms

BBS2L1, FLJ10715

Location

Chromosome 4: 121,824,440-121,870,497 reverse strand.

GRCh38:CM000666.2

About this gene

This gene has 6 transcripts (splice variants), 67 orthologues, is a member of 1 Ensembl protein family and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BBS7-001ENST000002644993752715aaENSP00000264499
 
Protein coding
CCDS3724Q8IWZ6 NM_176824
NP_789794
TSL:1GENCODE basicAPPRIS P1
BBS7-003ENST000005066362570672aaENSP00000423626
 
Protein coding
CCDS54799Q8IWZ6 NM_018190
NP_060660
TSL:1GENCODE basic
BBS7-007ENST00000507814734138aaENSP00000423250
 
Protein coding
-H0Y973 -CDS 5' incompleteTSL:3
BBS7-005ENST00000505692752No protein-
 
Retained intron
---TSL:2
BBS7-004ENST00000502444725No protein-
 
Retained intron
---TSL:2
BBS7-006ENST00000508536164No protein-
 
Retained intron
---TSL:5

Gene-based displays