Hs04757806_cn

• Gene Symbol: KCNH8
• Assay Reference Genome Location: Chr.3:19170480 on build GRCh38
• Cytoband: 3p24.3

Target Gene Details

• Entrez Gene ID: 131096
• Gene Name: potassium voltage-gated channel subfamily H member 8
• Gene Aliases: ELK, ELK1, Kv12.1, elk3
• Location: Chr.3:19148454-19535643 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNH8	NM_144633.2			NP_653234.2
	XM_017005698.1			XP_016861187.1
	XM_017005699.1			XP_016861188.1
	XM_017005700.1			XP_016861189.1
	XM_017005701.1			XP_016861190.1
	XM_017005702.1			XP_016861191.1
	AB209053.1			BAD92290.1
	AK295633.1
	AK309034.1
	AY053503.1			AAL15429.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1010123	Chr.3:18948815 - 19948012 on Build GRCh38	Gain	KCNH8 EFHB MIR4791 RAB5A
nsv517847	Chr.3:18803855 - 19442203 on Build GRCh38	Gain	KCNH8 MIR4791

More Information

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

phosphorelay signal transduction system
signal transduction by protein phosphorylation
regulation of ion transmembrane transport
regulation of membrane potential
potassium ion transmembrane transport

Function(s)

phosphorelay sensor kinase activity
voltage-gated potassium channel activity