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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GJB3 | NM_001005752.1 | 2 | 1622 | NP_001005752.1 |
NM_024009.2 | 2 | 2079 | NP_076872.1 | |
AF052692.1 | 1 | 2597 | AAD11816.1 | |
AK026139.1 | 2 | 2078 | ||
BC012918.1 | 2 | 1611 | AAH12918.1 | |
BC110640.1 | 1 | 2656 | AAI10641.1 | |
BE673240.1 | 1 | 142 | ||
BM846348.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1012995 | Chr.1:34786068 - 34884653 on Build GRCh38 | Gain | DLGAP3 GJA4 SMIM12 GJB3 |
More Information
Additional Information:
For this assay, SNP(s) [rs74567877] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |