Assay Details
Target Gene Details
Entrez Gene ID: | 124590 |
Gene Name: | USH1 protein network component sans |
Gene Aliases: |
ANKS4A, SANS |
Location: |
Chr.17:74916083-74923263 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
USH1G | NM_001282489.2 | 3 | 1952 | NP_001269418.1 |
NM_173477.4 | 3 | 2005 | NP_775748.2 | |
XM_011524296.2 | 3 | 1978 | XP_011522598.1 | |
AK091243.1 | 3 | 1998 | BAC03619.1 | |
AK289804.1 |
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 | USH1G CDR2L GRIN2C OTOP3 HID1 HID1-AS1 FDXR FADS6 MRPL58 OTOP2 TMEM104 |
nsv518292 | Chr.17:74810882 - 74982818 on Build GRCh38 | Loss | USH1G GRIN2C OTOP3 HID1 HID1-AS1 FDXR FADS6 OTOP2 TMEM104 |
nsv952367 | Chr.17:74751962 - 74961105 on Build GRCh38 | Deletion | USH1G GRIN2C OTOP3 NAT9 HID1 SLC9A3R1 FDXR FADS6 OTOP2 TMEM104 |
nsv576026 | Chr.17:74889500 - 74982818 on Build GRCh38 | Gain | USH1G OTOP3 HID1 HID1-AS1 FADS6 OTOP2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |