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 |