The CEP164 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol CEP164
Gene name centrosomal protein 164kDa
Chromosome 11
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NG_033032.1
Transcript reference NM_014956.4
Exon/intron information NM_014956.4 exon/intron table
Associated with diseases NPHP15
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 140
Unique public DNA variants reported 114
Individuals with public variants 222
Hidden variants 9
Notes This database is one of the "Eye disease" gene variant databases.
Date created February 11, 2013
Date last updated June 30, 2022
Version CEP164:220630

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_014956.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 29182
Entrez Gene 22897
PubMed articles CEP164
OMIM - Gene 614848
OMIM - Diseases NPHP15 (nephronophthisis, type 15 (NPHP-15))
Orphanet CEP164

Active transcripts




NCBI ID     

NCBI Protein ID     

00004999 11 centrosomal protein 164kDa NM_014956.4 NP_055771.4 140

Copyright & disclaimer
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