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 | 4171 | NP_001171562.1 |
NM_001178092.1 | 9 | 4099 | NP_001171563.1 | |
NM_001178093.1 | 11 | 3878 | NP_001171564.1 | |
NM_001178094.1 | 11 | 4175 | NP_001171565.1 | |
NM_005504.6 | 11 | 4282 | NP_005495.2 | |
XM_017019768.1 | 10 | 3890 | XP_016875257.1 | |
AK024923.1 | 1 | 2094 | ||
AK128527.1 | 9 | 3726 | ||
BX647122.1 | 11 | 3884 | ||
CR749308.1 | 11 | 4084 | CAH18163.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv557794 | Chr.12:24811449 - 24817774 on Build GRCh38 | Gain | BCAT1 |
esv2422312 | Chr.12:24366458 - 25068752 on Build GRCh38 | Duplication | LRMP LINC00477 BCAT1 LOC645177 SOX5 C12orf77 |
nsv469173 | Chr.12:24738241 - 25054719 on Build GRCh38 | Gain | LRMP BCAT1 LOC645177 C12orf77 |
nsv469169 | Chr.12:24539449 - 25204746 on Build GRCh38 | Gain | LRMP LINC00477 BCAT1 LOC645177 SOX5 LYRM5 CASC1 C12orf77 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |