The AASDH gene homepage

General information
Gene symbol AASDH
Gene name aminoadipate-semialdehyde dehydrogenase
Chromosome 4
Chromosomal band q12
Imprinted Unknown
Genomic reference NC_000004.11
Transcript reference NM_181806.2, XM_005265721.1, XM_005265724.2, XM_005265726.2, XM_005265727.1
Associated with diseases -
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 200
Unique public DNA variants reported 24
Individuals with public variants 35
Hidden variants 37
Date created November 30, -0001
Date last updated September 28, 2016
Version AASDH: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:23993
Entrez Gene 132949
PubMed articles AASDH
OMIM - Gene 614365


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015450 4 Manually created transcript. (expired, new version available) NM_181806.2 - 200
00044238 4 transcript variant X1 XM_005265721.1 XP_005265778.1 -
00044239 4 transcript variant X7 XM_005265727.1 XP_005265784.1 -
00044240 4 transcript variant X6 XM_005265726.2 XP_005265783.1 -
00044241 4 transcript variant X4 XM_005265724.2 XP_005265781.1 -