Hs00283692_cn

• Gene Symbol: KCNH3
• Assay Reference Genome Location: Chr.12:49542783 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 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNH3	NM_001314030.1	4	779	NP_001300959.1
	NM_012284.2	4	783	NP_036416.1
	XM_011538085.2	4	1399	XP_011536387.1
	XM_011538086.2	4	1395	XP_011536388.1
	XM_017019096.1	3	1165	XP_016874585.1
	XM_017019097.1	4	403	XP_016874586.1
	AB022696.1	4	558	BAA83590.1
	AB033108.1	4	783
	BC150602.1	4	664

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	FMNL3 SPATS2 LOC100422296 FAM186B PRPF40B 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