Product Details

Assay Reference Genome
Location

Chr.17:74916312 on build GRCh38
Cytoband
17q25.1
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
124590
Gene Symbol
USH1G
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 Location Protein ID
USH1G NM_001282489.2 3 3284 NP_001269418.1
NM_173477.4 3 3337 NP_775748.2
XM_011524296.2 3 3310 XP_011522598.1
AK091243.1 3 3330 BAC03619.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv833540 Chr17:74838971 - 75019365 on Build GRCh38 Loss TMEM104 OTOP3 HID1 FADS6 GRIN2C FDXR MRPL58 HID1-AS1 USH1G OTOP2 CDR2L
nsv518292 Chr17:74810882 - 74982818 on Build GRCh38 Loss TMEM104 OTOP3 HID1 FADS6 GRIN2C FDXR HID1-AS1 USH1G OTOP2
nsv952367 Chr17:74751962 - 74961105 on Build GRCh38 Deletion NAT9 TMEM104 OTOP3 HID1 FADS6 SLC9A3R1 GRIN2C FDXR USH1G OTOP2
nsv576026 Chr17:74889500 - 74982818 on Build GRCh38 Gain OTOP3 HID1 FADS6 HID1-AS1 USH1G OTOP2

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