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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 11 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
CEP290-001ENST00000552810.179482479aaENSP00000448012.1
 
Protein coding
CCDS55858O15078 NM_025114
NP_079390
GENCODE basic
CEP290-201ENST00000309041.775442481aaENSP00000308021.7
 
Protein coding
-J3KNF5 -GENCODE basic
CEP290-202ENST00000397838.366991539aaENSP00000380938.3
 
Protein coding
-O15078 -GENCODE basic
CEP290-005ENST00000547691.259681539aaENSP00000446905.1
 
Protein coding
-O15078 -GENCODE basic
CEP290-003ENST00000604024.12741857aaENSP00000473863.1
 
Protein coding
-Q96HG2 S4R322 -CDS 5' incomplete
CEP290-007ENST00000552770.21285107aaENSP00000447527.2
 
Protein coding
-F8W0V9 -CDS 5' incomplete
CEP290-006ENST00000550962.1697164aaENSP00000447623.1
 
Protein coding
-F8W097 -CDS 3' incomplete
CEP290-004ENST00000547926.22122613aaENSP00000448573.2
 
Nonsense mediated decay
-F8VS29 -CDS 5' incomplete

Gene-based displays