Assay Details
Target Gene Details
Entrez Gene ID: | 7291 |
Gene Name: | twist family bHLH transcription factor 1 |
Gene Aliases: |
ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, TWIST, bHLHa38 |
Location: |
Chr.7:19113047-19117672 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TWIST1 | NM_000474.3 | 2 | 1445 | NP_000465.1 |
XM_011515496.1 | XP_011513798.1 | |||
AW173505.1 | 1 | 238 | ||
BC036704.2 | 2 | 1445 | AAH36704.1 | |
X99268.1 | 2 | 1215 | CAA67664.1 | |
Y11177.1 | 1 | 462 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3612462 | Chr.7:19111202 - 19116559 on Build GRCh38 | Loss | TWIST1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |