View DCTN1 gene homepage

General information
Gene symbol DCTN1
Gene name dynactin 1
Chromosome 2
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_008735.2
Transcript reference NM_004082.4
Exon/intron information NM_004082.4 exon/intron table
Associated with diseases ALS-1, HMN-7B, Perry
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 22
Unique public DNA variants reported 17
Individuals with public variants 73
Hidden variants 4
Notes This database is one of the ”Leiden Muscular Dystrophy pages” gene variant databases
Date created May 23, 2012
Date last updated April 02, 2015
Version DCTN1:150402

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_004082.4.
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/DCTN1
External URL For graphical displays see Human Variation DB
HGNC 2711
Entrez Gene 1639
PubMed articles DCTN1
OMIM - Gene 601143
OMIM - Diseases ALS-1 (sclerosis, lateral, amyotrophic, type 1 (ALS-1))
HMN-7B (neuropathy, motor, distal, hereditary, type VIIb (HMN-7B))
Perry (Perry syndrome)
HGMD DCTN1
GeneCards DCTN1
GeneTests DCTN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006175 2 transcript variant 1 NM_004082.4 NP_004073.2 22


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