SCO2 synthesis of cytochrome C oxidase 2

Information
Symbol
SCO2
Type
protein-coding
Description
synthesis of cytochrome C oxidase 2
Entrez Gene ID
9997
Genome
hg19
Position
chr22:50,962,002-50,964,890
Genome
hg38
Position
chr22:50,523,573-50,526,461
MIM
604272 OMIM
HGNC
HGNC:10604 HGNC
Ensembl
ENSG00000284194 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 140
Likely pathogenic 2 60
Benign 0 60
Likely benign 0 678
Conflicting classifications of pathogenicity 0 66
not provided 1 0
Uncertain significance 0 464
Ranking
ClinVar
0
0
188
1,120
52
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM CEMCOX1
SYNONYM ECGF1
SYNONYM Gliostatin
SYNONYM MC4DN2
SYNONYM MYP6
SYNONYM PD-ECGF
SYNONYM SCO1L
SYNONYM TP
SYNONYM TYMP
SYNONYM TdRPase
MIM 604272 OMIM
HGNC HGNC:10604 HGNC
Ensembl ENSG00000284194 Ensembl
AllianceGenome HGNC:10604
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000395693.8 hg38 chr22 50,523,568 50,525,598 2,031
ENST00000252785.3 hg38 chr22 50,523,596 50,525,604 2,009
ENST00000543927.6 hg38 chr22 50,523,573 50,526,461 2,889
ENST00000535425.5 hg38 chr22 50,523,568 50,526,145 2,578
ENST00000395693.8 hg19 chr22 50,961,997 50,964,027 2,031
ENST00000535425.5 hg19 chr22 50,961,997 50,964,574 2,578
ENST00000543927.6 hg19 chr22 50,962,002 50,964,890 2,889
ENST00000252785.3 hg19 chr22 50,962,025 50,964,033 2,009
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