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 Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BTBD18 | NM_001145101.1 | 3 | 1734 | NP_001138573.1 |
XM_011545212.2 | 3 | 2993 | XP_011543514.1 | |
XM_017018127.1 | 2 | 3433 | XP_016873616.1 | |
XM_017018128.1 | 3 | 1690 | XP_016873617.1 | |
BC157853.1 | 2 | 1639 | ||
BC157854.1 | 2 | 1639 |
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 | C11orf31 BTBD18 TMX2 TMX2-CTNND1 |
nsv508633 | Chr.11:57652112 - 57792573 on Build GRCh38 | Deletion | C11orf31 CTNND1 MED19 BTBD18 TMX2 ZDHHC5 TMX2-CTNND1 CLP1 |
nsv832164 | Chr.11:57640144 - 57811353 on Build GRCh38 | Loss | C11orf31 CTNND1 MED19 BTBD18 TMX2 ZDHHC5 TMX2-CTNND1 MIR130A YPEL4 CLP1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |