SLC6A8 gene homepage

General information
Gene symbol SLC6A8
Gene name solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference NG_012016.1
Transcript reference NM_005629.3
Exon/intron information NM_005629.3 exon/intron table
Associated with diseases CCDS-1, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Gajja Salomons and Eric Wever
Total number of public variants reported 399
Unique public DNA variants reported 189
Individuals with public variants 689
Hidden variants 82
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 07, 2009
Date last updated December 06, 2019
Version SLC6A8:191206

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_005629.3.
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 http://www.LOVD.nl/SLC6A8
External URL Orphanet
HGNC 11055
Entrez Gene 6535
PubMed articles SLC6A8
OMIM - Gene 300036
OMIM - Diseases CCDS-1 (CDSX)
HGMD SLC6A8
GeneCards SLC6A8
GeneTests SLC6A8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023863 X transcript variant 1 NM_005629.3 NP_005620.1 399


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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.