Assay Details
Target Gene Details
Entrez Gene ID: | 2707 |
Gene Name: | gap junction protein beta 3 |
Gene Aliases: |
CX31, DFNA2, DFNA2B, EKV |
Location: |
Chr.1:34781189-34786366 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GJB3 | NM_024009.2 | 1 | 230 | NP_076872.1 |
AK026139.1 | 1 | 230 | ||
AL547036.3 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv947426 | Chr.1:34760525 - 34782365 on Build GRCh38 | Duplication | GJB4 GJB3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |