Hs00542098_cn

• Gene Symbol: KCNH6
• Assay Reference Genome Location: Chr.17:63535681 on build GRCh38
• Cytoband: 17q23.3

Target Gene Details

• Entrez Gene ID: 81033
• Gene Name: potassium voltage-gated channel subfamily H member 6
• Gene Aliases: ERG-2, ERG2, HERG2, Kv11.2, hERG-2
• Location: Chr.17:63523334-63548977 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNH6	NM_001278919.1			NP_001265848.1
	NM_001278920.1			NP_001265849.1
	NM_030779.3			NP_110406.1
	NM_173092.2			NP_775115.1
	XM_011525308.2			XP_011523610.1
	XM_011525309.2			XP_011523611.1
	XM_011525310.2			XP_011523612.1
	XM_011525311.1			XP_011523613.1
	XM_011525312.1			XP_011523614.1
	XM_011525313.1			XP_011523615.1
	XM_017025175.1			XP_016880664.1
	XM_017025176.1			XP_016880665.1
	XM_017025177.1			XP_016880666.1
	XM_017025178.1			XP_016880667.1
	XM_017025179.1			XP_016880668.1
	XM_017025180.1			XP_016880669.1
	AF311913.1			AAG40871.1
	AK091877.1			BAC03764.1
	AK296498.1
	AK298363.1
	BC006334.2			AAH06334.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3640998	Chr.17:63526371 - 63539713 on Build GRCh38	Loss	KCNH6
nsv952355	Chr.17:63522640 - 63550539 on Build GRCh38	Deletion	KCNH6 DCAF7
esv2675657	Chr.17:63526487 - 63539627 on Build GRCh38	Deletion	KCNH6

More Information

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

regulation of ion transmembrane transport
regulation of membrane potential
potassium ion transmembrane transport

Function(s)

voltage-gated potassium channel activity