Hs01431864_cn

• Gene Symbol: KCNH3
• Assay Reference Genome Location: Chr.12:49554386 on build GRCh38
• Cytoband: 12q13.12

Target Gene Details

• Entrez Gene ID: 23416
• Gene Name: potassium voltage-gated channel subfamily H member 3
• Gene Aliases: BEC1, ELK2, Kv12.2
• Location: Chr.12:49538541-49558312 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNH3	NM_001314030.1	11	2224	NP_001300959.1
	NM_012284.2	11	2228	NP_036416.1
	XM_011538085.2	11	2844	XP_011536387.1
	XM_011538086.2	11	2840	XP_011536388.1
	XM_017019096.1	10	2610	XP_016874585.1
	XM_017019097.1	11	1848	XP_016874586.1
	AB022696.1	11	2003	BAA83590.1
	AB033108.1	11	2228
	BC150602.1	11	2109

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832406	Chr.12:49466910 - 49668353 on Build GRCh38	Loss	SPATS2 PRPF40B FMNL3 FAM186B LOC100422296 KCNH3 MCRS1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

phosphorelay signal transduction system
potassium ion transport
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
protein binding