Product Details

Assay Reference Genome
Location

Chr.17:74919853 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 3
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
USH1G NM_001282489.2 2 1120 NP_001269418.1
NM_173477.4 2 1173 NP_775748.2
XM_011524296.2 2 1146 XP_011522598.1
AK091243.1 2 1166 BAC03619.1
AK289804.1 2 1170
AK296899.1 2 1113
BC101096.2 2 1060 AAI01097.1
BC101097.1 2 1060 AAI01098.1
BC101098.2 2 1060 AAI01099.1
BC101099.1 2 1060 AAI01100.1

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 CDR2L FDXR OTOP2 OTOP3 HID1 GRIN2C FADS6 USH1G MRPL58 HID1-AS1
nsv518292 Chr17:74810882 - 74982818 on Build GRCh38 Loss TMEM104 FDXR OTOP2 OTOP3 HID1 GRIN2C FADS6 USH1G HID1-AS1
nsv952367 Chr17:74751962 - 74961105 on Build GRCh38 Deletion TMEM104 FDXR OTOP2 OTOP3 HID1 SLC9A3R1 GRIN2C FADS6 USH1G NAT9
nsv576026 Chr17:74889500 - 74982818 on Build GRCh38 Gain OTOP2 OTOP3 HID1 FADS6 USH1G HID1-AS1

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