The CERS1 gene homepage

General information
Gene symbol CERS1
Gene name ceramide synthase 1
Chromosome 19
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_033056.1
Transcript reference NM_021267.3, NM_198207.2
Associated with diseases EPM-8
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 121
Unique public DNA variants reported 11
Individuals with public variants 35
Hidden variants 9
Date created November 30, -0001
Date last updated September 28, 2016
Version CERS1:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:14253
OMIM - Gene 606919
OMIM - Diseases EPM-8 (epilepsy?, myoclonic, progressive, type 8 (EPM-8))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010751 19 transcript variant 1 NM_021267.3 NP_067090.1 121
00010752 19 transcript variant 2 NM_198207.2 NP_937850.1 65