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Creatine transporter: solute carrier family 6 (neurotransmitter transporter

Gene
URLhttp://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=SLC6A8
Last updated16th Mar 2012
Unique public variants151
LSDB PlatformLOVD version 2.0-34
Listing of public variants in this database, where available
ID chr Position
(genomic)
mRNA
position
Variant
(HGVS)
Class* DNA type* Coding?* Times
reported
More
information
No data
* Class, DNA type and coding/non-coding are inferred by the Knowledge Centre from HGVS variant names.
Attribute
yesExplanation of content and aim
yesUseful links
yesLinks to OMIM
yesLinks to HGMD
noLinks to other LSDBs
noDatabase description published
yesCopyright notice displayed
yesDisclaimer available
noLanguage other than English
Attribute
yesReference sequence
noDetailed information about the disease
noList of associations and/or patient organisations
yesChromosome location
yesInformation on gene
noProtein function description
yesHGVS nomenclature used
Attribute
yesSummary table listing all mutations
noDownloadable table of variants
noStatic HTML pages (no search option)
noFlat-file database
yesRelational database
yesUse of specific DBMS
noMutation visualization tool
Attribute
yesData collected by contact with curators
yesData collected via literature
yesOnline variant submission tool
Attribute
yesQuerying tool(s)
yesField: Author name
yesField: Codon number
yesField: Ethnic group
yesField: Gene region
yesField: Geographic location
yesField: Phenotype
yesField:Mutation name
yesOther fields for querying
Attribute
yesComplete reference list
yesLinks to references
yesSummary phenotypic description
noDetailed phenotypic description
noCross-reference with other databases
yesRestriction enzyme change shown
yesEthnic group
noMutation frequency
yesDetection method
G2P Knowledge Centre is part of GEN2PHEN and funded by the Health Thematic Area of the Cooperation Programme of the European Commission within the VII Framework Programme for Research and Technological Development.

© GEN2PHEN 2011