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: | Within Intron 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 | FLT3LG BCL2L12 DKKL1 SNAR-A5 PLA2G4C BCAT2 FGF21 PIH1D1 SNORD35B C19orf68 ELSPBP1 C19orf73 CD37 RUVBL2 CABP5 SNAR-C2 LMTK3 MIR6800 HSD17B14 ZNF473 DBP CGB1 RPS11 PRMT1 CA11 PRRG2 NUCB1 SNAR-C1 MIR4324 CGB5 TMEM143 BAX TSKS MIR6799 MED25 LIN7B SNAR-A10 SLC6A16 MIR4749 CGB3 SCAF1 SNORD34 PTOV1-AS2 LOC105372430 NUCB1-AS1 TEAD2 RCN3 SNAR-G2 IZUMO1 SPACA4 FTL SNAR-A13 AKT1S1 FCGRT SIGLEC11 CARD8 DHDH SYNGR4 SNAR-A12 CCDC114 MIR4750 TRPM4 TULP2 PLEKHA4 RRAS LOC101928295 SNAR-A4 IRF3 FAM83E ALDH16A1 MIR5088 SNORD32A PNKP HRC BSPH1 PTH2 SEC1P SNAR-C4 SNAR-B2 SNRNP70 KCNA7 PTOV1 SPHK2 SNAR-A3 KDELR1 SNAR-A11 SNAR-A7 MIR6798 PPFIA3 RPL18 NTF4 GRIN2D CYTH2 GYS1 FUZ FUT2 PPP1R15A RASIP1 SNAR-B1 SIGLEC16 NUP62 FLJ26850 SNORD33 PTOV1-AS1 MIR150 TBC1D17 LOC100287477 LOC105447645 CPT1C SNAR-C5 SNAR-D IL4I1 ADM5 MIR4751 SULT2B1 KCNJ14 FUT1 PRR12 LHB AP2A1 GFY SLC17A7 PLA2G4C-AS1 CGB2 LIG1 SNAR-A1 NTN5 VRK3 SNAR-A6 SNAR-A8 NOSIP GRWD1 SNORD35A CGB7 SNAR-A9 ZNF114 LOC101059948 SNAR-G1 SNAR-A14 SNAR-A2 SNAR-C3 EMP3 CCDC155 MAMSTR CGB8 RPL13A CARD8-AS1 ATF5 |
nsv833855 | Chr.19:48750098 - 48949781 on Build GRCh38 | Loss | TULP2 DHDH PLEKHA4 HSD17B14 PPP1R15A NUCB1-AS1 FUT1 BCAT2 FGF21 NUCB1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |