Hs05475353_cn

• Gene Symbol: SCO1
• Assay Reference Genome Location: Chr.17:10684390 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 6341
• Gene Name: SCO1 cytochrome c oxidase assembly protein
• Gene Aliases: SCOD1
• Location: Chr.17:10679770-10697568 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCO1	NM_004589.3			NP_004580.1
	XM_005256751.3			XP_005256808.1
	AF026852.1			AAD08641.1
	AF131816.1			AAD20051.1
	AF183424.1			AAG09693.1
	AK074588.1
	AK098826.1
	AK315595.1
	BC015504.2			AAH15504.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1065819	Chr.17:10622619 - 10784575 on Build GRCh38	Gain	SCO1 MYHAS TMEM220 MAGOH2P ADPRM MYH3 TMEM220-AS1
nsv1063900	Chr.17:10662646 - 10729182 on Build GRCh38	Gain	SCO1 TMEM220 MAGOH2P ADPRM MYH3
nsv833367	Chr.17:10683841 - 10826633 on Build GRCh38	Loss	SCO1 PIRT TMEM220 MAGOH2P ADPRM LINC00675 TMEM220-AS1
nsv1058835	Chr.17:10322963 - 10939602 on Build GRCh38	Loss	MYHAS MYH13 MYH4 PIRT TMEM220 MYH1 ADPRM MYH8 SCO1 MAGOH2P MYH3 LINC00675 TMEM220-AS1 MYH2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidase

Gene Ontology Categories:

Process(es)

generation of precursor metabolites and energy
copper ion transport
cellular copper ion homeostasis
respiratory chain complex IV assembly

Function(s)

copper ion binding
protein binding