The BAAT gene homepage

General information
Gene symbol BAAT
Gene name bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)
Chromosome 9
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NG_009774.1
Transcript reference NM_001127610.1, NM_001701.3
Associated with diseases Hypercholanemia, familial
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 63
Unique public DNA variants reported 4
Individuals with public variants 35
Hidden variants 16
Date created November 30, -0001
Date last updated September 28, 2016
Version BAAT: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:932
Entrez Gene 570
PubMed articles BAAT
OMIM - Gene 602938
OMIM - Diseases Hypercholanemia, familial


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010211 9 transcript variant 1 NM_001701.3 NP_001692.1 63
00010212 9 transcript variant 2 NM_001127610.1 NP_001121082.1 63