Assay Details
Target Gene Details
Entrez Gene ID: | 587 |
Gene Name: | branched chain amino acid transaminase 2 |
Gene Aliases: |
BCAM, BCATM, BCT2, PP18 |
Location: |
Chr.19:48795062-48811063 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 4 - Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BCAT2 | NM_001164773.1 | NP_001158245.1 | ||
NM_001190.3 | NP_001181.2 | |||
NM_001284325.1 | NP_001271254.1 | |||
AF268047.1 | AAK38368.1 | |||
AF268048.1 | AAK38369.1 | |||
AK023909.1 | ||||
AK093627.1 | ||||
AK223522.1 | BAD97242.1 | |||
AK309428.1 | ||||
AK310101.1 | ||||
AK310243.1 | ||||
AK314548.1 | ||||
BC001900.1 | AAH01900.1 | |||
BC004243.1 | AAH04243.2 | |||
BM802402.1 | ||||
DA129578.1 | ||||
U62739.1 | AAB53087.1 | |||
U68418.1 | AAB67672.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | MAMSTR TEAD2 CD37 LIG1 FTL HRC TRPM4 PLA2G4C TULP2 LOC101928295 CYTH2 DKKL1 LOC101059948 NOSIP SNAR-C3 GFY CA11 NUP62 DHDH PLA2G4C-AS1 C19orf73 SYNGR4 BCL2L12 RPL18 AP2A1 SNAR-G2 IZUMO1 SNAR-A4 SNAR-A10 SNAR-G1 FUZ RASIP1 FAM83E FUT1 CGB3 LOC105372430 NUCB1-AS1 PTOV1-AS1 CCDC155 SNAR-A12 MIR150 SNAR-A8 CGB8 FLT3LG LIN7B TMEM143 MIR4749 SNAR-B1 TBC1D17 IL4I1 KDELR1 SNAR-C5 CCDC114 SNAR-A5 SNAR-A13 PTOV1-AS2 MIR6798 CGB2 SNAR-D CABP5 SNAR-C4 NUCB1 PLEKHA4 BAX VRK3 SNORD34 SLC17A7 PIH1D1 PRRG2 GRWD1 SNORD33 CGB1 SNRNP70 RRAS EMP3 CGB7 SULT2B1 AKT1S1 NTF4 DBP SNAR-B2 SIGLEC11 RCN3 FGF21 SNAR-C1 IRF3 LMTK3 BSPH1 FCGRT SNAR-A9 FLJ26850 TSKS MIR4324 ALDH16A1 CARD8-AS1 SNAR-A2 C19orf68 SNAR-A7 PRMT1 SIGLEC16 PNKP SNORD32A PPFIA3 RPL13A MIR5088 RUVBL2 GYS1 LOC100287477 SPACA4 SNAR-C2 RPS11 PTOV1 LOC105447645 SNAR-A14 SLC6A16 KCNJ14 MED25 MIR4751 CPT1C MIR6800 SCAF1 BCAT2 CGB5 ADM5 MIR6799 PPP1R15A SNAR-A3 SPHK2 ELSPBP1 MIR4750 SNORD35A ATF5 CARD8 ZNF114 PRR12 GRIN2D PTH2 SNORD35B SEC1P NTN5 HSD17B14 SNAR-A1 ZNF473 KCNA7 FUT2 SNAR-A6 LHB SNAR-A11 |
nsv833855 | Chr.19:48750098 - 48949781 on Build GRCh38 | Loss | FGF21 TULP2 NUCB1 PLEKHA4 DHDH BCAT2 PPP1R15A FUT1 NUCB1-AS1 HSD17B14 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |