Assay Details
Target Gene Details
Entrez Gene ID: | 127534 |
Gene Name: | gap junction protein beta 4 |
Gene Aliases: |
CX30.3, EKV |
Location: |
Chr.1:34759741-34763724 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GJB4 | NM_153212.2 | 2 | 315 | NP_694944.1 |
XM_011540679.2 | 2 | 603 | XP_011538981.1 | |
AK057628.1 | 2 | 315 | ||
BC034709.1 | AAH34709.1 |
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 |