Hs03982824_cn

• Gene Symbol: ATP5H
• Assay Reference Genome Location: Chr.17:75041019 on build GRCh38
• Cytoband: 17q25.1

Target Gene Details

• Entrez Gene ID: 10476
• Gene Name: ATP synthase, H+ transporting, mitochondrial Fo complex subunit D
• Gene Aliases: ATPQ
• Location: Chr.17:75038860-75046979 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP5H	NM_001003785.1			NP_001003785.1
	NM_006356.2			NP_006347.1
	AA608885.1
	AF061735.1			AAG43146.1
	AF070650.1			AAD20956.1
	AF086159.1
	AF087135.1			AAC36338.1
	AK095671.1	1	180
	AK312230.1
	BC029392.1
	BC032245.1			AAH32245.1
	BC038092.2			AAH38092.1

Target Gene Details

• Entrez Gene ID: 23510
• Gene Name: potassium channel tetramerization domain containing 2
• Gene Aliases: -
• Location: Chr.17:75032567-75065889 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCTD2	NR_110835.1
	AK307083.1
	AK311278.1
	DA408645.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893044	Chr.17:75032657 - 75048093 on Build GRCh38	Loss	ATP5H KCTD2

More Information

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

Panther Classification:

Molecular Function -

ATP synthase

Gene Ontology Categories:

Process(es)

ATP biosynthetic process
ATP synthesis coupled proton transport
mitochondrial ATP synthesis coupled proton transport
protein homooligomerization

Function(s)

ATPase activity
transmembrane transporter activity
proton-transporting ATP synthase activity, rotational mechanism
protein complex binding