The ABAT gene homepage

General information
Gene symbol ABAT
Gene name 4-aminobutyrate aminotransferase
Chromosome 16
Chromosomal band p13.2
Imprinted Unknown
Genomic reference NG_008432.1
Transcript reference NM_000663.4, NM_001127448.1, NM_020686.5, XM_005255154.1
Associated with diseases Gamma-aminobutyric acid transaminase deficiency
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 160
Unique public DNA variants reported 14
Individuals with public variants 35
Hidden variants 114
Date created November 30, -0001
Date last updated September 28, 2016
Version ABAT: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:23
Entrez Gene 18
PubMed articles ABAT
OMIM - Gene 137150
OMIM - Diseases Gamma-aminobutyric acid transaminase deficiency


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009777 16 transcript variant 1 NM_020686.5 NP_065737.2 160
00009778 16 transcript variant 2 NM_000663.4 NP_000654.2 160
00009779 16 transcript variant 3 NM_001127448.1 NP_001120920.1 160
00037536 16 transcript variant X1 XM_005255154.1 XP_005255211.1 -