Product Details

Assay Reference Genome
Location

Chr.13:20188122 on build GRCh38
Cytoband
13q12.11
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
2706
Gene Symbol
GJB2
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 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 Chr13:20145912 - 20223722 on Build GRCh38 Gain GJB6 GJB2 GJA3
nsv1046946 Chr13:19730301 - 20507454 on Build GRCh38 Gain GJB6 ZMYM5 GJB2 MIR4499 GJA3 ZMYM2 PSPC1 CRYL1 LINC01072

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