Hs06147997_cn

• Gene Symbol: PRPH2
• Assay Reference Genome Location: Chr.6:42695224 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:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PRPH2

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	GLTSCR1L UBR2 PRPH2 TBCC ATP6V0CP3 LOC401261
nsv1017398	Chr.6:42659705 - 43400998 on Build GRCh38	Gain	CRIP3 CUL7 DNPH1 RPL7L1 SRF GLTSCR1L PRPH2 GNMT ZNF318 ATP6V0CP3 MRPL2 CUL9 CNPY3 RRP36 PTK7 LOC401261 C6orf226 PTCRA PPP2R5D SLC22A7 MEA1 CNPY3-GNMT UBR2 TBCC KLC4 KLHDC3 TTBK1 PEX6

More Information

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