Assay Details
Target Gene Details
Entrez Gene ID: | 10804 |
Gene Name: | gap junction protein beta 6 |
Gene Aliases: |
CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2 |
Location: |
Chr.13:20221962-20232395 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GJB6 | NM_001110219.2 | 5 | 1215 | NP_001103689.1 |
NM_001110220.2 | 4 | 1105 | NP_001103690.1 | |
NM_001110221.2 | 3 | 981 | NP_001103691.1 | |
NM_006783.4 | 3 | 1147 | NP_006774.2 | |
XM_017020357.1 | 4 | 1420 | XP_016875846.1 | |
XM_017020358.1 | 5 | 1110 | XP_016875847.1 | |
XM_017020359.1 | 5 | 1140 | XP_016875848.1 | |
XM_017020360.1 | 4 | 907 | XP_016875849.1 | |
AK075247.1 | 5 | 1047 | ||
AK289592.1 | 3 | 895 | ||
AK312352.1 | 3 | 854 | ||
AY297110.1 | 1 | 594 | AAP51162.1 | |
BC038934.1 | 3 | 842 | AAH38934.1 | |
CF453597.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3631424 | Chr.13:20190147 - 20280383 on Build GRCh38 | Gain | GJB6 GJB2 |
dgv1612n100 | Chr.13:20222652 - 20530273 on Build GRCh38 | Loss | MIR4499 GJB6 CRYL1 |
esv3631426 | Chr.13:20219223 - 20261765 on Build GRCh38 | Gain | GJB6 |
dgv3072n54 | Chr.13:20216603 - 20521581 on Build GRCh38 | Loss | MIR4499 GJB6 CRYL1 |
esv3631421 | Chr.13:20145912 - 20223722 on Build GRCh38 | Gain | GJB6 GJA3 GJB2 |
nsv1046946 | Chr.13:19730301 - 20507454 on Build GRCh38 | Gain | MIR4499 GJB6 LINC01072 CRYL1 GJA3 ZMYM5 PSPC1 ZMYM2 GJB2 |
esv2751132 | Chr.13:20217943 - 20546665 on Build GRCh38 | Loss | MIR4499 GJB6 CRYL1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |