Hs05015949_cn

• Gene Symbol: TRPV6
• Assay Reference Genome Location: Chr.7:142883325 on build GRCh38
• Cytoband: 7q34

Target Gene Details

• Entrez Gene ID: 55503
• Gene Name: transient receptor potential cation channel subfamily V member 6
• Gene Aliases: ABP/ZF, CAT1, CATL, ECAC2, HSA277909, LP6728, ZFAB
• Location: Chr.7:142871203-142885745 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TRPV6	NM_018646.5			NP_061116.5
	AF304463.1			AAG41951.1
	AF365927.1			AAL40230.1
	AF365928.1			AAM00356.1
	AJ243500.2			CAC20416.2
	AJ243501.2			CAC20417.2
	AJ487964.2			CAD32311.1
	AK291707.1
	KF534785.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831168	Chr.7:142830591 - 143025918 on Build GRCh38	Gain	TRPV5 TRPV6 C7orf34 KEL EPHB6
nsv608656	Chr.7:142878270 - 142884980 on Build GRCh38	Loss	TRPV6
esv2759569	Chr.7:142434958 - 143027060 on Build GRCh38	Loss	TRBV23-1 TRPV5 TRBV19 OR9A2 C7orf34 TRBV6-5 KEL TRBJ2-2 TRPV6 PRSS2 TRBV21-1 TRBV27 PRSS1 MTRNR2L6 TRBV16 TRBC1 EPHB6 TRBV5-4
nsv526015	Chr.7:142864981 - 142944120 on Build GRCh38	Gain	TRPV5 TRPV6 C7orf34 KEL EPHB6
nsv520735	Chr.7:142865498 - 142944120 on Build GRCh38	Loss	TRPV5 TRPV6 C7orf34 KEL EPHB6
nsv428187	Chr.7:142618692 - 142909521 on Build GRCh38	Loss	TRBJ2-2 TRBV23-1 TRPV5 TRPV6 PRSS2 TRBV21-1 TRBV27 TRBV19 PRSS1 MTRNR2L6 TRBC1 EPHB6
nsv1030700	Chr.7:142867398 - 143010429 on Build GRCh38	Gain	TRPV5 TRPV6 C7orf34 KEL EPHB6

More Information

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

calcium ion transport
regulation of calcium ion-dependent exocytosis
calcium ion transmembrane transport
calcium ion import into cell

Function(s)

calcium channel activity
protein binding
calmodulin binding