Gene
Gene: 
CEP290 (official gene symbol)
Other symbol: 
CEP290
CT family: 
CT87 
   CT identifier: 
CT87
 
Aliases from NCBI:
 3H11Ag , FLJ13615 , FLJ21979 , JBTS5 , JBTS6 , KIAA0373 , LCA10 , MKS4 , NPHP6 , rd16 , SLSN6 
Gene structure and chromosomal localization
Chromosome band: 12q21.32
See this gene in the UCSC Genome Browser :
See this gene in the NCBI Map Viewer Genome Browser :
                              
                               
Exon-intron structure and splicing variants
    
Splicing variants documented by RefSeqs:

 
SNPs
 Show
| ACCESSION | ALLELES | HET | SE_HET | FXN_CLASS | RESIDUE | AA_POSITION | VALIDATED | 
									| rs2468255 | C/T | 0.344352 | 0.231512 | coding-synonymous | S | 755 | YES | 
									| rs2468255 | C/T | 0.344352 | 0.231512 | reference | S | 755 | YES | 
									| rs7307793 | C/T | 0.127632 | 0.218005 | missense | H | 1236 | YES | 
									| rs7307793 | C/T | 0.127632 | 0.218005 | reference | R | 1236 | YES | 
									| rs7970228 | A/C | 0.095 | 0.19615 | missense | W | 905 | YES | 
									| rs7970228 | A/C | 0.095 | 0.19615 | reference | L | 905 | YES | 
									| rs11104729 | C/T | 0.00950097 | 0.0682658 | reference | I | 1835 | YES | 
									| rs11104729 | C/T | 0.00950097 | 0.0682658 | missense | V | 1835 | YES | 
									| rs11104738 | C/T | 0.255843 | 0.249932 | reference | K | 837 | YES | 
									| rs11104738 | C/T | 0.255843 | 0.249932 | missense | E | 837 | YES | 
									| rs11831931 | A/G | 0 | 0 | reference | L | 1580 | YES | 
									| rs11831931 | A/G | 0 | 0 | missense | F | 1580 | YES | 
									| rs11836796 | C/T | 0 | 0 | reference | Q | 1135 | YES | 
									| rs11836796 | C/T | 0 | 0 | coding-synonymous | Q | 1135 | YES |