Assay Details
Target Gene Details
Entrez Gene ID: | 10856 |
Gene Name: | RuvB like AAA ATPase 2 |
Gene Aliases: |
CGI-46, ECP-51, ECP51, INO80J, REPTIN, RVB2, TAP54-beta, TIH2, TIP48, TIP49B |
Location: |
Chr.19:48993448-49015995 on Build GRCh38 |
Assay Gene Location: | Within Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RUVBL2 | NM_001321190.1 | NP_001308119.1 | ||
NM_001321191.1 | NP_001308120.1 | |||
NM_006666.2 | NP_006657.1 | |||
NR_135578.1 | ||||
XM_011526330.1 | XP_011524632.1 | |||
AB024301.1 | BAA76708.1 | |||
AF124607.1 | AAF87087.1 | |||
AF151804.1 | AAD34041.1 | |||
AF155138.1 | AAD38073.1 | |||
AK027762.1 | ||||
AK057498.1 | ||||
AK074542.1 | BAC11048.1 | |||
AK301344.1 | ||||
AL136743.1 | CAB66677.1 | |||
BC000428.2 | AAH00428.1 | |||
BC004531.2 | AAH04531.1 | |||
BC008355.1 | AAH08355.1 | |||
CR533507.1 | CAG38538.1 | |||
Y18417.1 | CAB46270.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833859 | Chr.19:48997009 - 49173266 on Build GRCh38 | Loss | CGB2 SNAR-G1 TRPM4 CGB7 C19orf73 PPFIA3 SNRNP70 CGB8 KCNA7 RUVBL2 HRC LIN7B NTF4 SNAR-G2 CGB5 MIR6798 LHB CGB3 LOC101059948 CGB1 |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | MIR5088 NUCB1-AS1 FLT3LG MIR150 SIGLEC16 SNORD35A SNAR-B2 SNAR-A9 RRAS LOC105447645 SNAR-A4 NUCB1 RPS11 SNAR-G2 GRWD1 ELSPBP1 EMP3 AP2A1 CYTH2 PNKP RASIP1 SNAR-A14 SNAR-A3 SNAR-G1 SLC17A7 SNORD34 SNAR-A13 CGB7 FCGRT CCDC155 LMTK3 CARD8 NOSIP RPL18 DKKL1 SULT2B1 SNAR-C2 CD37 FTL MIR6798 LHB SNAR-A7 SNAR-A1 LOC101059948 CGB2 PLEKHA4 PTOV1-AS1 FAM83E PPFIA3 MIR4749 BSPH1 TBC1D17 PLA2G4C-AS1 DBP SNAR-C5 SLC6A16 ADM5 HRC GYS1 RPL13A CA11 SNAR-A11 AKT1S1 FUT1 ZNF114 CCDC114 PTH2 BCL2L12 MED25 SIGLEC11 VRK3 PPP1R15A MIR4750 SNAR-C3 IL4I1 MIR6800 LOC105372430 NTN5 SNAR-A10 SNAR-D CGB5 FGF21 KCNJ14 PRMT1 TEAD2 TMEM143 SNAR-A5 ZNF473 GRIN2D MIR4324 TULP2 RUVBL2 NTF4 SNAR-C1 GFY HSD17B14 BAX PRRG2 MAMSTR SNRNP70 CGB8 PRR12 SNORD33 SNAR-A12 KCNA7 SNAR-A2 TSKS KDELR1 FUZ LOC101928295 PTOV1-AS2 PTOV1 CGB3 MIR6799 MIR4751 PIH1D1 SNORD32A LIG1 CABP5 TRPM4 CPT1C C19orf68 SPACA4 FLJ26850 LIN7B IZUMO1 NUP62 PLA2G4C IRF3 SCAF1 DHDH SYNGR4 RCN3 SNAR-A6 FUT2 SNAR-A8 C19orf73 SNAR-C4 BCAT2 LOC100287477 SNAR-B1 CARD8-AS1 SNORD35B ALDH16A1 ATF5 SEC1P SPHK2 CGB1 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | BAX RUVBL2 GYS1 FTL MIR6798 LHB LOC101059948 |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | CGB2 BAX SNAR-G1 NUCB1-AS1 CGB7 C19orf73 PPFIA3 SNRNP70 CGB8 KCNA7 NUCB1 RUVBL2 LIN7B NTF4 GYS1 SNAR-G2 CGB5 DHDH FTL MIR6798 LHB CGB3 LOC101059948 CGB1 |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | CGB2 BAX SNAR-G1 CGB7 SNRNP70 CGB8 KCNA7 RUVBL2 NTF4 GYS1 SNAR-G2 CGB5 FTL MIR6798 LHB CGB3 LOC101059948 CGB1 |
More Information
Additional Information:
For this assay, SNP(s) [rs77078012] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |