Human (GRCh37.p13)
Description

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

Gene Synonyms

BBS2L1, FLJ10715

Location

Chromosome 4: 122,745,595-122,791,652 reverse strand.

GRCh37:CM000666.1

About this gene

This gene has 6 transcripts (splice variants) and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000264499.4BBS7-0013752715aaENSP00000264499.4
 
Protein coding
CCDS3724H0Y973 Q8IWZ6 NM_176824.2GENCODE basic
ENST00000506636.1BBS7-0032570672aaENSP00000423626.1
 
Protein coding
CCDS54799Q8IWZ6 NM_018190.3GENCODE basic
ENST00000507814.1BBS7-007734138aaENSP00000423250.1
 
Protein coding
H0Y973 -CDS 5' incomplete
ENST00000505692.1BBS7-005752No protein-
 
Retained intron
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ENST00000502444.1BBS7-004725No protein-
 
Retained intron
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ENST00000508536.1BBS7-006164No protein-
 
Retained intron
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