The SCO2 gene homepage

General information
Gene symbol SCO2
Gene name SCO2 cytochrome c oxidase assembly protein
Chromosome 22
Chromosomal band q13.33
Imprinted Unknown
Genomic reference NG_016235.1
Transcript reference NM_001169109.1, NM_001169110.1, NM_001169111.1, NM_005138.2
Associated with diseases CEMCOX, ID, MYP-6
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 286
Unique public DNA variants reported 38
Individuals with public variants 35
Hidden variants 24
Date created November 30, -0001
Date last updated September 28, 2016
Version SCO2:160928

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:10604
Entrez Gene 9997
PubMed articles SCO2
OMIM - Gene 604272
OMIM - Diseases CEMCOX (cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency)
MYP-6 (myopia, type 6 (MYP-6))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022668 22 transcript variant 2 NM_001169109.1 NP_001162580.1 286
00022669 22 transcript variant 3 NM_001169110.1 NP_001162581.1 282
00022670 22 transcript variant 1 NM_005138.2 NP_005129.2 282
00022671 22 transcript variant 4 NM_001169111.1 NP_001162582.1 282