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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GJB6 | NM_001110219.2 | 4 | 501 | NP_001103689.1 |
NM_001110220.2 | 3 | 391 | NP_001103690.1 | |
NM_001110221.2 | 2 | 267 | NP_001103691.1 | |
NM_006783.4 | 2 | 433 | NP_006774.2 | |
XM_017020357.1 | 3 | 706 | XP_016875846.1 | |
XM_017020358.1 | 4 | 396 | XP_016875847.1 | |
XM_017020359.1 | 4 | 426 | XP_016875848.1 | |
XM_017020360.1 | 3 | 193 | XP_016875849.1 | |
AK075247.1 | 4 | 333 | ||
AK289592.1 | 2 | 181 | ||
AK312352.1 | 2 | 139 | ||
AY789474.1 | 2 | 105 | AAV67951.1 | |
AY789475.1 | 3 | 229 | AAV67952.1 | |
AY789476.1 | 4 | 345 | AAV67953.1 | |
BC038934.1 | 2 | 128 | AAH38934.1 | |
BP227986.1 | 2 | 189 | ||
DA165219.1 | ||||
DC295753.1 | 3 | 309 | ||
DC337465.1 | 2 | 433 | ||
DN998505.1 | 4 | 503 |
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 | GJB6 MIR4499 CRYL1 |
esv3631426 | Chr.13:20219223 - 20261765 on Build GRCh38 | Gain | GJB6 |
dgv3072n54 | Chr.13:20216603 - 20521581 on Build GRCh38 | Loss | GJB6 MIR4499 CRYL1 |
nsv1046946 | Chr.13:19730301 - 20507454 on Build GRCh38 | Gain | GJB6 ZMYM5 LINC01072 MIR4499 GJA3 CRYL1 PSPC1 ZMYM2 GJB2 |
esv2751132 | Chr.13:20217943 - 20546665 on Build GRCh38 | Loss | GJB6 MIR4499 CRYL1 |
More Information
Additional Information:
For this assay, SNP(s) [rs114639494] 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 |