CC2D1A gene homepage

General information
Gene symbol CC2D1A
Gene name coiled-coil and C2 domain containing 1A
Chromosome 19
Chromosomal band p13.12
Imprinted Unknown
Genomic reference NG_013089.1
Transcript reference NM_017721.4
Associated with diseases ID, MRT-3
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 22
Unique public DNA variants reported 20
Individuals with public variants 1
Hidden variants 0
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created May 01, 2012
Date last updated November 01, 2018
Version CC2D1A:181101

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 30237
Entrez Gene 54862
PubMed articles CC2D1A
OMIM - Gene 610055
OMIM - Diseases MRT-3 (mental retardation, autosomal recessive, type 3 (MRT-3))
GeneCards CC2D1A
GeneTests CC2D1A

Active transcripts




NCBI ID     

NCBI Protein ID     

00000030 19 coiled-coil and C2 domain containing 1A NM_017721.4 NP_060191.3 22

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