The ASPA gene homepage

General information
Gene symbol ASPA
Gene name aspartoacylase
Chromosome 17
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_008399.1
Transcript reference NM_000049.2, NM_001128085.1
Associated with diseases ID, Spongy degeneration of central nervous system
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 15
Unique public DNA variants reported 3
Individuals with public variants 17
Hidden variants 16
Date created November 30, -0001
Date last updated September 23, 2016
Version ASPA:160923

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:756
Entrez Gene 443
PubMed articles ASPA
OMIM - Gene 608034
OMIM - Diseases Spongy degeneration of central nervous system


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010146 17 transcript variant 2 NM_001128085.1 NP_001121557.1 15
00010147 17 transcript variant 1 NM_000049.2 NP_000040.1 15