The COX20 gene homepage

General information
Gene symbol COX20
Gene name COX20 cytochrome C oxidase assembly factor
Chromosome 1
Chromosomal band q44
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_198076.4, NR_026778.1
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 32
Unique public DNA variants reported 7
Individuals with public variants 25
Hidden variants -
Date created November 30, -0001
Date last updated September 28, 2016
Version COX20:160928

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:26970
Entrez Gene 116228
PubMed articles COX20
OMIM - Gene 614698
OMIM - Diseases cytochrome-c oxidase deficiency (mitochondrial complex IV deficiency)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00028309 1 COX20 cytochrome C oxidase assembly factor NM_198076.4 NP_932342.1 32
00031645 1 Manually created transcript (removed from reference sequence) NR_026778.1 - -