Product Details

Assay Reference Genome
Location

Chr.17:74920497 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 2 476 NP_001269418.1
NM_173477.4 2 529 NP_775748.2
XM_011524296.2 2 502 XP_011522598.1
AK091243.1 2 522 BAC03619.1
AK289804.1 2 526
AK296899.1 2 469
BC101096.2 2 416 AAI01097.1
BC101097.1 2 416 AAI01098.1
BC101098.2 2 416 AAI01099.1
BC101099.1 2 416 AAI01100.1
DC403891.1

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

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