Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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 |
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 |
Set Membership: |
Intragenic Exonic DGV Variation Validated |