The ALG14 gene homepage

General information
Gene symbol ALG14
Gene name ALG14, UDP-N-acetylglucosaminyltransferase subunit
Chromosome 1
Chromosomal band p21.3
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_144988.3, XM_005270582.1
Associated with diseases CMS-15
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 5
Unique public DNA variants reported 3
Individuals with public variants 5
Hidden variants 12
Date created November 30, -0001
Date last updated September 20, 2016
Version ALG14:160920

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:28287
Entrez Gene 199857
PubMed articles ALG14
OMIM - Gene 612866
OMIM - Diseases CMS-15 (myasthenic syndrome, congenital, type 15, without tubular aggregates (CMS-15))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020684 1 ALG14, UDP-N-acetylglucosaminyltransferase subunit NM_144988.3 NP_659425.1 5
00032063 1 transcript variant X1 XM_005270582.1 XP_005270639.1 -