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 | 1954 | NP_003995.2 |
XM_011535049.2 | 2 | 1945 | XP_011533351.1 | |
AA947181.1 | 1 | 380 | ||
AA962716.1 | 1 | 375 | ||
BC017048.1 | 2 | 1877 | AAH17048.1 | |
BC071703.1 | AAH71703.1 | |||
BI491091.1 | 1 | 394 | ||
M86849.2 | 1 | 1939 | 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 | GJA3 GJB2 GJB6 |
nsv1046946 | Chr.13:19730301 - 20507454 on Build GRCh38 | Gain | GJA3 ZMYM5 CRYL1 ZMYM2 MIR4499 PSPC1 LINC01072 GJB2 GJB6 |
Set Membership: |
Intragenic Exonic DGV Variation |