Hs04971294_cn

• Gene Symbol: TRPV5
• Assay Reference Genome Location: Chr.7:142909443 on build GRCh38
• Cytoband: 7q34

Target Gene Details

• Entrez Gene ID: 56302
• Gene Name: transient receptor potential cation channel subfamily V member 5
• Gene Aliases: CAT2, ECAC1, OTRPC3
• Location: Chr.7:142908101-142933723 on Build GRCh38
• Assay Gene Location: Within Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TRPV5	NM_019841.6			NP_062815.3
	AF304464.1			AAL04015.1
	AJ271207.2			CAB96365.2
	AJ487965.2			CAD32312.2

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	TRPV6 EPHB6 C7orf34 TRPV5 KEL
esv2759569	Chr.7:142434958 - 143027060 on Build GRCh38	Loss	TRPV6 PRSS2 MTRNR2L6 C7orf34 TRBV21-1 TRBJ2-2 KEL TRBV27 OR9A2 TRBV5-4 TRBV19 EPHB6 TRBC1 PRSS1 TRBV23-1 TRPV5 TRBV6-5 TRBV16
nsv526015	Chr.7:142864981 - 142944120 on Build GRCh38	Gain	TRPV6 EPHB6 C7orf34 TRPV5 KEL
nsv520735	Chr.7:142865498 - 142944120 on Build GRCh38	Loss	TRPV6 EPHB6 C7orf34 TRPV5 KEL
nsv428187	Chr.7:142618692 - 142909521 on Build GRCh38	Loss	TRBV27 TRPV6 TRBV19 EPHB6 TRBC1 PRSS2 PRSS1 TRBV23-1 MTRNR2L6 TRPV5 TRBV21-1 TRBJ2-2
nsv1030700	Chr.7:142867398 - 143010429 on Build GRCh38	Gain	TRPV6 EPHB6 C7orf34 TRPV5 KEL

More Information

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

calcium ion transport
protein tetramerization
calcium ion transmembrane transport

Function(s)

calcium channel activity
protein binding
calmodulin binding