Assay Details
Target Gene Details
Entrez Gene ID: | 643376 |
Gene Name: | BTB domain containing 18 |
Gene Aliases: |
- |
Location: |
Chr.11:57743514-57753176 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BTBD18 | NM_001145101.1 | NP_001138573.1 | ||
XM_011545212.2 | XP_011543514.1 | |||
XM_017018127.1 | XP_016873616.1 | |||
XM_017018128.1 | XP_016873617.1 | |||
BC157853.1 | ||||
BC157854.1 | ||||
DC346943.1 |
Target Gene Details
Entrez Gene ID: | 100528016 |
Gene Name: | TMX2-CTNND1 readthrough (NMD candidate) |
Gene Aliases: |
- |
Location: |
Chr.11:57712523-57819180 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TMX2-CTNND1 | NR_037646.1 | |||
AB002382.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv326 | Chr.11:57731081 - 57748887 on Build GRCh38 | Insertion | TMX2-CTNND1 TMX2 BTBD18 C11orf31 |
nsv508633 | Chr.11:57652112 - 57792573 on Build GRCh38 | Deletion | TMX2-CTNND1 TMX2 BTBD18 CLP1 ZDHHC5 MED19 C11orf31 CTNND1 |
nsv832164 | Chr.11:57640144 - 57811353 on Build GRCh38 | Loss | TMX2-CTNND1 TMX2 BTBD18 CLP1 MIR130A ZDHHC5 MED19 YPEL4 C11orf31 CTNND1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |