Assay Details
Target Gene Details
Entrez Gene ID: | 2705 |
Gene Name: | gap junction protein beta 1 |
Gene Aliases: |
CMTX, CMTX1, CX32 |
Location: |
Chr.X:71215212-71225215 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GJB1 | NM_000166.5 | 2 | 923 | NP_000157.1 |
NM_001097642.2 | 2 | 872 | NP_001091111.1 | |
XM_011530907.2 | 2 | 971 | XP_011529209.1 | |
XM_017029408.1 | 3 | 1092 | XP_016884897.1 | |
AK313474.1 | 2 | 867 | ||
BC002805.1 | 2 | 832 | AAH02805.1 | |
BC022426.1 | 2 | 903 | AAH22426.1 | |
BC039198.1 | 2 | 845 | AAH39198.1 | |
BI764356.1 | ||||
BT019329.1 | 1 | 777 | AAV38136.1 | |
X04325.1 | 2 | 839 | CAA27856.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv508781 | Chr.X:71205875 - 71286242 on Build GRCh38 | Insertion |
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esv33082 | Chr.X:70420685 - 71888183 on Build GRCh38 | Loss |
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More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
