View gene SPAST

General information
Gene symbol SPAST
Gene name spastin
Chromosome 2
Chromosomal band p24-p21
Imprinted Unknown
Genomic reference NG_008730.1
Transcript reference NM_014946.3
Exon/intron information NM_014946.3
Associated with diseases SPG-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Christian Beetz
Total number of public variants reported 10
Unique public DNA variants reported 10
Individuals with public variants 9
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 25, 2016
Version SPAST:160125

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
Homepage URL http://www.LOVD.nl/SPAST
HGNC 11233
Entrez Gene 6683
PubMed articles SPAST
OMIM - Gene 604277
OMIM - Diseases SPG-4 (paraplegia, spastic, autosomal dominant, type 4 (SPG-4))
HGMD SPAST
GeneCards SPAST
GeneTests SPAST


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024039 2 transcript variant 1 NM_014946.3 NP_055761.2 10


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