Hs01944002_cn

• Gene Symbol: OTOP2
• Assay Reference Genome Location: Chr.17:74924848 on build GRCh38
• Cytoband: 17q25.1

Target Gene Details

• Entrez Gene ID: 92736
• Gene Name: otopetrin 2
• Gene Aliases: -
• Location: Chr.17:74922963-74933913 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
OTOP2	NM_178160.2	2	308	NP_835454.1
	XM_011525479.1	3	518	XP_011523781.1
	AK000063.1	2	308

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833540	Chr.17:74838971 - 75019365 on Build GRCh38	Loss	USH1G GRIN2C HID1 TMEM104 FDXR HID1-AS1 MRPL58 CDR2L OTOP2 OTOP3 FADS6
nsv518292	Chr.17:74810882 - 74982818 on Build GRCh38	Loss	USH1G GRIN2C HID1 TMEM104 FDXR HID1-AS1 OTOP2 OTOP3 FADS6
nsv952367	Chr.17:74751962 - 74961105 on Build GRCh38	Deletion	USH1G GRIN2C NAT9 HID1 TMEM104 FDXR OTOP2 SLC9A3R1 OTOP3 FADS6
nsv576026	Chr.17:74889500 - 74982818 on Build GRCh38	Gain	USH1G HID1 HID1-AS1 OTOP2 OTOP3 FADS6
nsv1056788	Chr.17:74922211 - 75028689 on Build GRCh38	Gain	USH1G HID1 HID1-AS1 MRPL58 CDR2L OTOP2 OTOP3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

transporter