Hs02012211_cn

• Gene Symbol: RCVRN
• Assay Reference Genome Location: Chr.17:9905043 on build GRCh38
• Cytoband: 17p13.1

Target Gene Details

• Entrez Gene ID: 5957
• Gene Name: recoverin
• Gene Aliases: RCV1
• Location: Chr.17:9897710-9905367 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RCVRN	NM_002903.2	1	325	NP_002894.1
	AB001838.1	1	138	BAA19460.1
	AB593156.1	1	224
	AK314129.1	1	579
	BC001720.1	1	209	AAH01720.1
	BT009838.1	1	138	AAP88840.1
	S43855.1	1	325	AAB23163.1
	S45545.1	1	225	AAB23392.1
	S62028.1	1	222	AAB26894.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv38n68	Chr.17:9897032 - 10093580 on Build GRCh38	Loss	GAS7 RCVRN
nsv516119	Chr.17:9901176 - 9917378 on Build GRCh38	Loss	GAS7 RCVRN
nsv1065401	Chr.17:9799828 - 9986825 on Build GRCh38	Loss	GLP2R GAS7 GSG1L2 RCVRN
nsv833361	Chr.17:9785863 - 9979090 on Build GRCh38	Gain	DHRS7C GLP2R GAS7 GSG1L2 RCVRN

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

signal transduction
visual perception
phototransduction
positive regulation of guanylate cyclase activity
regulation of calcium ion transport

Function(s)

calcium ion binding
calcium sensitive guanylate cyclase activator activity