Hs04983290_cn

• Gene Symbol: TRPV6
• Assay Reference Genome Location: Chr.7:142876353 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 6

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
	AK075103.1			BAC11402.1
	AK291707.1
	AY203947.1			AAP34470.1
	KF534785.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv949965	Chr.7:142862343 - 142878755 on Build GRCh38	Deletion	EPHB6 TRPV6
nsv831168	Chr.7:142830591 - 143025918 on Build GRCh38	Gain	KEL C7orf34 TRPV5 EPHB6 TRPV6
esv2759569	Chr.7:142434958 - 143027060 on Build GRCh38	Loss	MTRNR2L6 KEL OR9A2 TRPV5 TRBV16 TRBV21-1 TRBJ2-2 TRBV27 TRBV19 TRBV23-1 TRPV6 PRSS1 TRBV5-4 PRSS2 C7orf34 EPHB6 TRBV6-5 TRBC1
nsv526015	Chr.7:142864981 - 142944120 on Build GRCh38	Gain	KEL C7orf34 TRPV5 EPHB6 TRPV6
nsv520735	Chr.7:142865498 - 142944120 on Build GRCh38	Loss	KEL C7orf34 TRPV5 EPHB6 TRPV6
nsv428187	Chr.7:142618692 - 142909521 on Build GRCh38	Loss	MTRNR2L6 PRSS2 TRPV5 EPHB6 TRBV21-1 TRBJ2-2 TRBV27 TRBC1 TRBV19 TRBV23-1 TRPV6 PRSS1
nsv1030700	Chr.7:142867398 - 143010429 on Build GRCh38	Gain	KEL C7orf34 TRPV5 EPHB6 TRPV6

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