Hs06576885_cn

• Gene Symbol: ATPAF1
• Assay Reference Genome Location: Chr.1:46638027 on build GRCh38
• Cytoband: 1p33

Target Gene Details

• Entrez Gene ID: 64756
• Gene Name: ATP synthase mitochondrial F1 complex assembly factor 1
• Gene Aliases: ATP11, ATP11p
• Location: Chr.1:46635039-46668427 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATPAF1	NM_001042546.2			NP_001036011.2
	NM_001243728.1			NP_001230657.1
	NM_001256418.1			NP_001243347.1
	NM_022745.4			NP_073582.3
	AK026004.1			BAB15316.1
	AK301874.1
	AK302090.1
	AK311271.1
	BC008498.1			AAH08498.1
	BC018781.1			AAH18781.1
	BC071731.1			AAH71731.1
	BX438342.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1007280	Chr.1:46622444 - 46663916 on Build GRCh38	Gain	ATPAF1

More Information

Additional Information:

For this assay, SNP(s) [rs72896683] 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 -

chaperone

Gene Ontology Categories:

Process(es)

mitochondrial proton-transporting ATP synthase complex assembly

Function(s)

protein binding