Hs01404044_cn

• Gene Symbol: PRPH2
• Assay Reference Genome Location: Chr.6:42696690 on build GRCh38
• Cytoband: 6p21.1

Target Gene Details

• Entrez Gene ID: 5961
• Gene Name: peripherin 2
• Gene Aliases: AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2
• Location: Chr.6:42694509-42723024 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRPH2	NM_000322.4	3	2932	NP_000313.2
	M62958.1	3	2894
	M73531.1	3	2894	AAA60260.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830650	Chr.6:42690493 - 42873400 on Build GRCh38	Loss	ATP6V0CP3 GLTSCR1L PRPH2 UBR2 LOC401261 TBCC
nsv1017398	Chr.6:42659705 - 43400998 on Build GRCh38	Gain	ATP6V0CP3 DNPH1 CRIP3 ZNF318 RPL7L1 RRP36 TBCC MRPL2 CUL7 PTK7 TTBK1 CNPY3-GNMT PTCRA GNMT SLC22A7 KLHDC3 MEA1 SRF C6orf226 PPP2R5D GLTSCR1L PEX6 KLC4 PRPH2 UBR2 LOC401261 CNPY3 CUL9

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

cell adhesion
cell surface receptor signaling pathway
visual perception
retina development in camera-type eye