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: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TGFBR1 | NM_001130916.2 | NP_001124388.1 | ||
NM_001306210.1 | NP_001293139.1 | |||
NM_004612.3 | NP_004603.1 | |||
XM_011518949.2 | XP_011517251.1 | |||
XM_017015063.1 | XP_016870552.1 | |||
AJ619019.2 | ||||
AK302059.1 | ||||
BC071181.1 | AAH71181.1 | |||
EF142853.1 | ||||
EF142854.1 | ||||
L11695.1 | AAA16073.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv950918 | Chr.9:99105819 - 99122718 on Build GRCh38 | Duplication | TGFBR1 |
esv3621214 | Chr.9:98651384 - 99637088 on Build GRCh38 | Gain | LOC101928438 TGFBR1 ALG2 SEC61B NAMA GABBR2 COL15A1 GALNT12 ANKS6 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |