The CCDC88C gene homepage

General information
Gene symbol CCDC88C
Gene name coiled-coil domain containing 88C
Chromosome 14
Chromosomal band q32.12
Imprinted Unknown
Genomic reference NG_033118.1
Transcript reference NM_001080414.3
Associated with diseases ID, SCA-40, Hydrocephalus, nonsyndromic, autosomal recessive
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 127
Unique public DNA variants reported 109
Individuals with public variants 30
Hidden variants 19
Date created May 03, 2013
Date last updated September 17, 2021
Version CCDC88C:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 19967
Entrez Gene 440193
PubMed articles CCDC88C
OMIM - Gene 611204
OMIM - Diseases SCA-40 (ataxia, spinocerebellar, type 40 (SCA-40))
Hydrocephalus, nonsyndromic, autosomal recessive
Orphanet CCDC88C

Active transcripts




NCBI ID     

NCBI Protein ID     

00004517 14 coiled-coil domain containing 88C NM_001080414.3 NP_001073883.2 127

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