The SOD1 gene homepage

General information
Gene symbol SOD1
Gene name superoxide dismutase 1, soluble
Chromosome 21
Chromosomal band q22.11
Imprinted Unknown
Genomic reference NG_008689.1
Transcript reference NM_000454.4
Exon/intron information NM_000454.4 exon/intron table
Associated with diseases ALS1, STAHP
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 65
Unique public DNA variants reported 45
Individuals with public variants 62
Hidden variants -
Date created May 03, 2013
Date last updated February 26, 2024
Version SOD1:240226

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_000454.4.
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
HGNC 11179
Entrez Gene 6647
PubMed articles SOD1
OMIM - Gene 147450
OMIM - Diseases ALS1 (sclerosis, lateral, amyotrophic, type 1 (ALS1))
STAHP (Spastic tetraplegia and axial hypotonia, progressive)
Orphanet SOD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020011 21 superoxide dismutase 1, soluble NM_000454.4 NP_000445.1 65


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