Assay Details
Target Gene Details
Entrez Gene ID: | 7046 |
Gene Name: | transforming growth factor beta receptor 1 |
Gene Aliases: |
AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TGFR-1, tbetaR-I |
Location: |
Chr.9:99104038-99154192 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TGFBR1 | XM_011518949.2 | XP_011517251.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3621214 | Chr.9:98651384 - 99637088 on Build GRCh38 | Gain | ALG2 GALNT12 SEC61B NAMA TGFBR1 LOC101928438 GABBR2 ANKS6 COL15A1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |