Genomic Map
Back To TopAssay Details
Target Gene Details
Entrez Gene ID: | 2706 |
Gene Name: | gap junction protein beta 2 |
Gene Aliases: |
CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK |
Location: |
Chr.13:20187463-20192975 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| GJB2 | NM_004004.5 | 2 | 1675 | NP_003995.2 |
| XM_011535049.2 | 2 | 1666 | XP_011533351.1 | |
| BC017048.1 | 2 | 1598 | AAH17048.1 | |
| BC071703.1 | 2 | 1604 | AAH71703.1 | |
| BI491091.1 | ||||
| M86849.2 | 1 | 1660 | AAD21314.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3631421 | Chr.13:20145912 - 20223722 on Build GRCh38 | Gain |
 GJB6
GJB2
GJA3
|
| nsv1046946 | Chr.13:19730301 - 20507454 on Build GRCh38 | Gain |
GJB6
ZMYM5
GJB2
MIR4499
GJA3
ZMYM2
PSPC1
CRYL1
LINC01072
|
Back To TopMore Information
Additional Information:
Set Membership: |
Intragenic
Exonic
DGV Variation
Validated
|
Panther Classification:
Gene Ontology Categories:
Back To Top