LOVD SLC6A8 homepage

General information
Gene name Creatine transporter: solute carrier family 6 (neurotransmitter transporter
Gene symbol SLC6A8
Chromosome Location Xq28
Database location grenada.lumc.nl
Curator Gajja Salomons
Database reference for citations Betsalel et al in prep
PubMed references View all (unique) PubMed references in the SLC6A8 database
Date of creation May 07, 2009
Last update November 01, 2018
Version SLC6A8 181101
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NC_000023.10
Transcript refseq ID NM_005629.3
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the SLC6A8 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage http://www.LOVD.nl/SLC6A8
HGNC 11055
Entrez Gene 6535
OMIM - Gene 300036
OMIM - Disease creatine deficiency syndrome, X-linked (CDSX)
HGMD SLC6A8
GeneTests SLC6A8
External link Orphanet

Copyright & disclaimer
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