View gene CCDC40

General information
Gene symbol CCDC40
Gene name coiled-coil domain containing 40
Chromosome 17
Chromosomal band q25.3
Imprinted Unknown
Genomic reference NG_029761.1
Transcript reference NM_017950.3
Exon/intron information NM_017950.3
Associated with diseases CILD-15
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 15
Unique public DNA variants reported 14
Individuals with public variants 13
Hidden variants 0
Date created August 20, 2012
Date last updated December 24, 2013
Version CCDC40:131224

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 26090
Entrez Gene 55036
PubMed articles CCDC40
OMIM - Gene 613799
OMIM - Diseases CILD-15 (dyskinesia, ciliary, primary, type 15 (CILD-15))
HGMD CCDC40
GeneCards CCDC40
GeneTests CCDC40


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000267 17 transcript variant 1 NM_017950.3 NP_060420.2 15


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