Assay Details
Target Gene Details
Entrez Gene ID: | 7049 |
Gene Name: | transforming growth factor beta receptor 3 |
Gene Aliases: |
BGCAN, betaglycan |
Location: |
Chr.1:91680343-91906002 on Build GRCh38 |
Assay Gene Location: | Within Exon 21 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TGFBR3 | NM_001195683.1 | 17 | 6122 | NP_001182612.1 |
NM_001195684.1 | 18 | 5958 | NP_001182613.1 | |
NM_003243.4 | 17 | 6125 | NP_003234.2 | |
NR_036634.1 | 18 | 6222 | ||
AI090023.1 | 1 | 351 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2714684 | Chr.1:91095800 - 93049130 on Build GRCh38 | Deletion | RPL5 KIAA1107 HSP90B3P CDC7 C1orf146 FAM69A SNORA66 SETSIP SNORD21 GLMN HFM1 RPAP2 BTBD8 TGFBR3 EVI5 BRDT GFI1 EPHX4 |
esv2763581 | Chr.1:91603410 - 91738246 on Build GRCh38 | Gain | HSP90B3P TGFBR3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |