The HGSNAT gene homepage

General information
Gene symbol HGSNAT
Gene name heparan-alpha-glucosaminide N-acetyltransferase
Chromosome 8
Chromosomal band p11.1
Imprinted Unknown
Genomic reference NG_009552.1
Transcript reference NM_152419.2, XM_005273409.1, XM_005273410.1, XM_005273411.1, XM_005273412.1
Associated with diseases MPS-3C, RP-73
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 52
Unique public DNA variants reported 9
Individuals with public variants 35
Hidden variants 25
Date created November 30, -0001
Date last updated September 28, 2016
Version HGSNAT: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:26527
Entrez Gene 138050
PubMed articles HGSNAT
OMIM - Gene 610453
OMIM - Diseases MPS-3C (mucopolysaccharidosis, type IIIC (MPS-3C))
RP-73 (retinitis pigmentosa, type 73 (RP-73))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011983 8 heparan-alpha-glucosaminide N-acetyltransferase NM_152419.2 NP_689632.2 52
00047225 8 transcript variant X1 XM_005273409.1 XP_005273466.1 -
00047226 8 transcript variant X4 XM_005273412.1 XP_005273469.1 -
00047227 8 transcript variant X3 XM_005273411.1 XP_005273468.1 -
00047228 8 transcript variant X2 XM_005273410.1 XP_005273467.1 -