Hs05521218_cn

• Gene Symbol: SCO1
• Assay Reference Genome Location: Chr.17:10687538 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 4

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
	DA571370.1

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	MYHAS TMEM220-AS1 TMEM220 MYH3 ADPRM MAGOH2P SCO1
nsv1063900	Chr.17:10662646 - 10729182 on Build GRCh38	Gain	TMEM220 MYH3 ADPRM MAGOH2P SCO1
nsv833367	Chr.17:10683841 - 10826633 on Build GRCh38	Loss	PIRT TMEM220-AS1 LINC00675 TMEM220 ADPRM MAGOH2P SCO1
nsv1058835	Chr.17:10322963 - 10939602 on Build GRCh38	Loss	MYH4 MYH8 MYHAS MYH1 LINC00675 TMEM220 ADPRM MYH13 PIRT TMEM220-AS1 MYH3 MYH2 MAGOH2P SCO1

More Information

Additional Information:

For this assay, SNP(s) [rs75428859] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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