Product Details

Assay Reference Genome
Location

Chr.17:74916122 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
Overlaps - Exon 4
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
USH1G NM_001282489.2 NP_001269418.1
NM_173477.4 NP_775748.2
XM_011524296.2 XP_011522598.1
AK091243.1 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 HID1 FDXR TMEM104 GRIN2C USH1G HID1-AS1 CDR2L MRPL58 OTOP2 FADS6 OTOP3
nsv518292 Chr17:74810882 - 74982818 on Build GRCh38 Loss HID1 FDXR TMEM104 GRIN2C USH1G HID1-AS1 OTOP2 FADS6 OTOP3
nsv952367 Chr17:74751962 - 74961105 on Build GRCh38 Deletion HID1 FDXR TMEM104 GRIN2C USH1G SLC9A3R1 OTOP2 FADS6 NAT9 OTOP3
nsv576026 Chr17:74889500 - 74982818 on Build GRCh38 Gain HID1 USH1G HID1-AS1 OTOP2 FADS6 OTOP3

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