Human (GRCh37.p13)
Description

centrosomal protein 290kDa [Source:HGNC Symbol;Acc:29021]

Gene Synonyms

3H11Ag, BBS14, CT87, FLJ13615, JBTS5, KIAA0373, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16

Location

Chromosome 12: 88,442,793-88,535,993 reverse strand.

GRCh37:CM000674.1

About this gene

This gene has 8 transcripts (splice variants) and is associated with 12 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000552810.1CEP290-00179482479aaENSP00000448012.1
 
Protein coding
CCDS55858O15078 NM_025114.3GENCODE basic
ENST00000309041.7CEP290-20175442481aaENSP00000308021.7
 
Protein coding
J3KNF5 -GENCODE basic
ENST00000397838.3CEP290-20266991539aaENSP00000380938.3
 
Protein coding
O15078 -GENCODE basic
ENST00000547691.2CEP290-00559681539aaENSP00000446905.1
 
Protein coding
O15078 -GENCODE basic
ENST00000604024.1CEP290-0032741857aaENSP00000473863.1
 
Protein coding
Q96HG2 S4R322 -CDS 5' incomplete
ENST00000552770.2CEP290-0071285107aaENSP00000447527.2
 
Protein coding
F8W0V9 -CDS 5' incomplete
ENST00000550962.1CEP290-006697164aaENSP00000447623.1
 
Protein coding
F8W097 -CDS 3' incomplete
ENST00000547926.2CEP290-0042122613aaENSP00000448573.2
 
Nonsense mediated decay
F8VS29 -CDS 5' incomplete