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See other COX17 CNV Assays ›
Gene Symbol
COX17
Assay Reference Genome
Location

Chr.3:119673804 on build GRCh38
Cytoband
Assay ID Hs04732685_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 10063

Gene Name:

 cytochrome c oxidase copper chaperone COX17

Gene Aliases:

 -

Location:

 Chr.3:119663975-119677406 on Build GRCh38

Assay Gene Location:

 Within Intron 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COX17 NM_001382002.1 NP_001368931.1
NM_005694.2 NP_005685.1
NR_167771.1
NR_167772.1
BC010933.1 AAH10933.1
BC105280.1 AAI05281.1
L77701.1 AAA98114.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2025-12-01, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1014394 Chr.3:119641659 - 119693428 on Build GRCh38 Loss POPDC2 COX17
nsv6368772 Chr.3:119640731 - 119691505 on Build GRCh38 Deletion POPDC2 COX17
esv3568977 Chr.3:119657752 - 119694492 on Build GRCh38 Loss POPDC2 COX17
nsv591390 Chr.3:119665316 - 119740004 on Build GRCh38 Gain COX17 CFAP91
nsv5889494 Chr.3:119662960 - 119757421 on Build GRCh38 Duplication COX17 CFAP91
nsv6371858 Chr.3:119672301 - 119679200 on Build GRCh38 Duplication COX17
nsv6357308 Chr.3:119617774 - 119678928 on Build GRCh38 Deletion POPDC2 PLA1A COX17

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More Information


Additional Information:

For this assay, SNP(s) [rs78840757] 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

Gene Ontology Categories:

Function(s) Process(es)


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