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See other GJB1 CNV Assays ›
Gene Symbol
GJB1
Assay Reference Genome
Location

Chr.X:71223146 on build GRCh38
Cytoband
Xq13.1
Assay ID Hs05609600_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 2705

Gene Name:

 gap junction protein beta 1

Gene Aliases:

 CMTX, CMTX1, CX32

Location:

 Chr.X:71215212-71225215 on Build GRCh38

Assay Gene Location:

 Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GJB1 NM_001097642.2 NP_001091111.1
XM_011530907.2 XP_011529209.1
XM_017029408.1 XP_016884897.1
BC039198.1 AAH39198.1
BI764356.1
X04325.1 CAA27856.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv508781 Chr.X:71205875 - 71286242 on Build GRCh38 Insertion NONO GJB1 ZMYM3
esv33082 Chr.X:70420685 - 71888183 on Build GRCh38 Loss SNX12 CXorf65 ZMYM3 SLC7A3 NONO TAF1 NLGN3 LOC105373244 OGT CXCR3 TEX11 FOXO4 IL2RG ITGB1BP2 DLG3 LOC100132741 LOC101059915 GDPD2 GJB1 KIF4A DLG3-AS1 LINC00891 CXorf49 MED12 CXorf49B INGX LOC100129291 ACRC

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