The AGA gene homepage

General information
Gene symbol AGA
Gene name aspartylglucosaminidase
Chromosome 4
Chromosomal band q34.3
Imprinted Unknown
Genomic reference NG_011845.2
Transcript reference NM_000027.3, NM_001171988.1, NR_033655.1
Associated with diseases AGU, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 147
Unique public DNA variants reported 9
Individuals with public variants 35
Hidden variants 18
Date created November 30, -0001
Date last updated September 28, 2016
Version AGA: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:318
Entrez Gene 175
PubMed articles AGA
OMIM - Gene 613228
OMIM - Diseases AGU (aspartylglucosaminuria (AGU))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020664 4 transcript variant 2 NM_001171988.1 NP_001165459.1 147
00020665 4 transcript variant 1 NM_000027.3 NP_000018.2 147
00031719 4 Manually created transcript NR_033655.1 - -