Human (GRCh37.p13)
Description

tetratricopeptide repeat domain 8 [Source:HGNC Symbol;Acc:20087]

Gene Synonyms

BBS8, RP51

Location

Chromosome 14: 89,290,497-89,344,335 forward strand.

GRCh37:CM000676.1

About this gene

This gene has 15 transcripts (splice variants), 1 paralogue and is associated with 9 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000338104.6TTC8-0052226531aaENSP00000337653.6
 
Protein coding
B3KSL8 Q8TAM2 NM_001288781.1GENCODE basic
ENST00000345383.5TTC8-0012183505aaENSP00000339486.5
 
Protein coding
CCDS9885B3KSL8 Q8TAM2 NM_198309.2GENCODE basic
ENST00000380656.2TTC8-0082171515aaENSP00000370031.2
 
Protein coding
CCDS32137B3KSL8 Q8TAM2 NM_144596.2GENCODE basic
ENST00000536576.1TTC8-2022139276aaENSP00000445067.1
 
Protein coding
B3KSL8 NM_001288783.1GENCODE basic
ENST00000346301.4TTC8-0062058475aaENSP00000298324.6
 
Protein coding
CCDS9886B3KSL8 Q8TAM2 NM_198310.2GENCODE basic
ENST00000554686.1TTC8-0101859437aaENSP00000452354.1
 
Protein coding
--CDS 5' incomplete
ENST00000358622.5TTC8-2011531317aaENSP00000351439.5
 
Protein coding
B3KSL8 Q8TAM2 -GENCODE basic
ENST00000354441.6TTC8-0071342250aaENSP00000346427.6
 
Protein coding
Q8TAM2 -GENCODE basic
ENST00000557580.1TTC8-013794265aaENSP00000451955.1
 
Protein coding
--CDS 5' and 3' incomplete
ENST00000556651.1TTC8-012599192aaENSP00000450993.1
 
Protein coding
G3V324 -CDS 3' incomplete
ENST00000555057.1TTC8-0092113186aaENSP00000450951.1
 
Nonsense mediated decay
G3V2Z9 --
ENST00000556077.1TTC8-0031020211aaENSP00000451034.1
 
Nonsense mediated decay
Q86U25 --
ENST00000553718.1TTC8-01147941aaENSP00000450905.1
 
Nonsense mediated decay
G3V2W6 --
ENST00000556567.1TTC8-004943No protein-
 
Retained intron
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ENST00000556133.1TTC8-014607No protein-
 
Retained intron
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