The SLC2A1 gene homepage

General information
Gene symbol SLC2A1
Gene name solute carrier family 2 (facilitated glucose transporter), member 1
Chromosome 1
Chromosomal band p34.2
Imprinted Unknown
Genomic reference NG_008232.1
Transcript reference NM_006516.2
Associated with diseases DYT-9, EIG-12, ID, GLUT1 deficiency syndrome, type 1, GLUT1 deficiency syndrome, type 2
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 49
Unique public DNA variants reported 13
Individuals with public variants 32
Hidden variants 20
Date created December 03, 2013
Date last updated September 28, 2016
Version SLC2A1:160928

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:11005
Entrez Gene 6513
PubMed articles SLC2A1
OMIM - Gene 138140
OMIM - Diseases DYT-9 (dystonia, type 9 (DYT-9))
EIG-12 (epilepsy, idiopathic, generalized, susceptibility to, type 12 (EIG-12))
GLUT1 deficiency syndrome, type 1
GLUT1 deficiency syndrome, type 2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009145 1 solute carrier family 2 (facilitated glucose transporter), member 1 NM_006516.2 NP_006507.2 49


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