ST3GAL3 gene homepage

General information
Gene symbol ST3GAL3
Gene name ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Chromosome 1
Chromosomal band p34.1
Imprinted Unknown
Genomic reference NG_028196.1
Transcript reference NM_174963.3
Exon/intron information NM_174963.3 exon/intron table
Associated with diseases EIEE-15, ID, MRT-12
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 23
Unique public DNA variants reported 18
Individuals with public variants 21
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated July 12, 2019
Version ST3GAL3:190712

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_174963.3.
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
Homepage URL https://www.LOVD.nl/ST3GAL3
HGNC 10866
Entrez Gene 6487
PubMed articles ST3GAL3
OMIM - Gene 606494
OMIM - Diseases EIEE-15 (encephalopathy, epileptic, early infantile, type 15 (EIEE-15))
MRT-12 (mental retardation, autosomal recessive, type 12 (MRT-12))
HGMD ST3GAL3
GeneCards ST3GAL3
GeneTests ST3GAL3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020373 1 transcript variant 1 NM_174963.3 NP_777623.2 23


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