SLC6A1 gene homepage

General information
Gene symbol SLC6A1
Gene name solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Chromosome 3
Chromosomal band p25.3
Imprinted Unknown
Genomic reference NC_000003.11
Transcript reference NM_003042.3
Associated with diseases MAE
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 32
Unique public DNA variants reported 30
Individuals with public variants 4
Hidden variants 4
Date created September 13, 2012
Date last updated July 12, 2019
Version SLC6A1:190712

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
HGNC 11042
Entrez Gene 6529
PubMed articles SLC6A1
OMIM - Gene 137165
OMIM - Diseases MAE (epilepsy, myoclonic-atonic (MAE))
HGMD SLC6A1
GeneCards SLC6A1
GeneTests SLC6A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001327 3 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 NM_003042.3 NP_003033.3 32


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