The SCO1 gene homepage

General information
Gene symbol SCO1
Gene name SCO1 cytochrome c oxidase assembly protein
Chromosome 17
Chromosomal band p13.1
Imprinted Unknown
Genomic reference NG_008228.2
Transcript reference NM_004589.2, XM_005256751.2
Associated with diseases cytochrome-c oxidase deficiency (mitochondrial complex IV deficiency)
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 17
Unique public DNA variants reported 7
Individuals with public variants 14
Hidden variants 1
Date created November 30, -0001
Date last updated September 23, 2016
Version SCO1:160923

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:10603
Entrez Gene 6341
PubMed articles SCO1
OMIM - Gene 603644
OMIM - Diseases cytochrome-c oxidase deficiency (mitochondrial complex IV deficiency)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019451 17 Manually created transcript. (expired, new version available) NM_004589.2 - 17
00038222 17 transcript variant X1 XM_005256751.2 XP_005256808.1 -