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: | Overlaps Intron 4 - Exon 5 |
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 | PPFIA3 MIR6798 CGB5 LOC101059948 CGB1 LHB NTF4 TRPM4 KCNA7 SNRNP70 HRC C19orf73 CGB3 SNAR-G2 CGB7 RUVBL2 SNAR-G1 CGB8 CGB2 LIN7B |
nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss | CYTH2 NUCB1-AS1 PTOV1-AS1 MAMSTR SNORD32A PRMT1 GFY CARD8 FUZ SNAR-A12 RRAS SNAR-C1 SNAR-A7 SNAR-A5 CGB7 SNORD35A BCL2L12 PLA2G4C CGB8 BAX CGB2 IRF3 MIR4749 FLJ26850 TRPM4 SULT2B1 CD37 SNAR-A4 SLC6A16 KCNJ14 SNORD34 CARD8-AS1 C19orf73 PTOV1-AS2 GRWD1 FCGRT SNAR-G2 MIR5088 TSKS NUCB1 CGB5 TMEM143 SIGLEC11 MED25 CPT1C DHDH AKT1S1 PTOV1 SNAR-A13 CCDC114 SNORD33 RPS11 FLT3LG IZUMO1 FGF21 MIR4751 ZNF473 PNKP SNAR-A2 MIR6798 LOC101059948 SNAR-A14 GRIN2D SNAR-A3 SNAR-A9 KCNA7 AP2A1 PLEKHA4 ATF5 SNAR-A8 HRC LOC101928295 FTL PRRG2 SNAR-A10 SYNGR4 MIR4324 SNAR-D SNAR-C2 TULP2 NOSIP PTH2 MIR6800 SIGLEC16 SNAR-B1 DKKL1 SNAR-A11 ELSPBP1 ALDH16A1 RASIP1 CGB3 FAM83E CCDC155 RUVBL2 SNAR-C3 MIR150 DBP SNAR-G1 NUP62 PPP1R15A VRK3 KDELR1 ZNF114 HSD17B14 GYS1 SNRNP70 MIR6799 PLA2G4C-AS1 TEAD2 RPL18 C19orf68 NTN5 SNORD35B CABP5 LIN7B CA11 PPFIA3 CGB1 RPL13A LOC105447645 SEC1P EMP3 BCAT2 FUT2 LIG1 PIH1D1 FUT1 ADM5 SCAF1 LOC105372430 BSPH1 RCN3 MIR4750 SNAR-B2 SLC17A7 LHB SNAR-C4 NTF4 PRR12 SPHK2 TBC1D17 SNAR-A1 SNAR-A6 IL4I1 SNAR-C5 LOC100287477 LMTK3 SPACA4 |
dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain | GYS1 MIR6798 LOC101059948 RUVBL2 LHB FTL BAX |
nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss | PPFIA3 MIR6798 CGB5 LOC101059948 CGB1 NUCB1-AS1 DHDH LHB NTF4 KCNA7 GYS1 SNRNP70 C19orf73 CGB3 SNAR-G2 CGB7 RUVBL2 FTL SNAR-G1 CGB8 BAX CGB2 LIN7B NUCB1 |
nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion | MIR6798 CGB5 LOC101059948 CGB1 LHB NTF4 KCNA7 GYS1 SNRNP70 CGB3 SNAR-G2 CGB7 RUVBL2 FTL SNAR-G1 CGB8 BAX CGB2 |
More Information
Additional Information:
For this assay, SNP(s) [rs117409064] 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 Non-exonic DGV Variation |