Assay Details
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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OTOP2 | NM_178160.2 | 6 | 803 | NP_835454.1 |
XM_011525479.1 | 7 | 1013 | XP_011523781.1 |
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 | MRPL58 OTOP3 OTOP2 FDXR HID1 HID1-AS1 FADS6 TMEM104 GRIN2C USH1G CDR2L |
nsv518292 | Chr.17:74810882 - 74982818 on Build GRCh38 | Loss | OTOP3 OTOP2 FDXR HID1 HID1-AS1 FADS6 TMEM104 GRIN2C USH1G |
nsv952367 | Chr.17:74751962 - 74961105 on Build GRCh38 | Deletion | SLC9A3R1 OTOP3 NAT9 OTOP2 FDXR HID1 FADS6 TMEM104 GRIN2C USH1G |
nsv576026 | Chr.17:74889500 - 74982818 on Build GRCh38 | Gain | OTOP3 OTOP2 HID1 HID1-AS1 FADS6 USH1G |
nsv1056788 | Chr.17:74922211 - 75028689 on Build GRCh38 | Gain | MRPL58 OTOP3 OTOP2 HID1 HID1-AS1 USH1G CDR2L |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |