Hs04899754_cn

• Gene Symbol: PRPH2
• Assay Reference Genome Location: Chr.6:42708653 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRPH2	NM_000322.4			NP_000313.2
	BC074720.2			AAH74720.1
	M62958.1
	M73531.1			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	LOC401261 UBR2 PRPH2 GLTSCR1L TBCC ATP6V0CP3
nsv1017398	Chr.6:42659705 - 43400998 on Build GRCh38	Gain	CUL7 CNPY3 SRF PTK7 TTBK1 GLTSCR1L MEA1 KLHDC3 PPP2R5D PTCRA C6orf226 UBR2 KLC4 RPL7L1 ZNF318 TBCC ATP6V0CP3 GNMT RRP36 LOC401261 PRPH2 CNPY3-GNMT CRIP3 CUL9 DNPH1 MRPL2 SLC22A7 PEX6

More Information

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

Gene Ontology Categories:

Process(es)

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