Assay Details
Target Gene Details
Entrez Gene ID: | 586 |
Gene Name: | branched chain amino acid transaminase 1 |
Gene Aliases: |
BCATC, BCT1, ECA39, MECA39, PNAS121, PP18 |
Location: |
Chr.12:24810024-24949459 on Build GRCh38 |
Assay Gene Location: | Within Exon 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BCAT1 | NM_001178091.1 | 10 | 8221 | NP_001171562.1 |
NM_001178092.1 | 9 | 8149 | NP_001171563.1 | |
NM_001178093.1 | 11 | 7928 | NP_001171564.1 | |
NM_001178094.1 | 11 | 8225 | NP_001171565.1 | |
NM_005504.6 | 11 | 8332 | NP_005495.2 | |
XM_017019768.1 | XP_016875257.1 | |||
AF277179.1 | ||||
AK025615.1 | ||||
BU730066.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422312 | Chr.12:24366458 - 25068752 on Build GRCh38 | Duplication | LOC645177 LRMP SOX5 LINC00477 C12orf77 BCAT1 |
nsv469173 | Chr.12:24738241 - 25054719 on Build GRCh38 | Gain | LOC645177 LRMP C12orf77 BCAT1 |
nsv469169 | Chr.12:24539449 - 25204746 on Build GRCh38 | Gain | CASC1 LOC645177 LRMP SOX5 LINC00477 C12orf77 LYRM5 BCAT1 |
nsv826283 | Chr.12:24749220 - 24812445 on Build GRCh38 | Loss | BCAT1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |