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See other RUVBL2 CNV Assays ›
Gene Symbol
RUVBL2
Assay Reference Genome
Location

Chr.19:49004196 on build GRCh38
Cytoband
19q13.33
Assay ID Hs04026859_cn
Size
Availability Made To Order
Catalog # 4400291
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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 KCNA7 NTF4 LOC101059948 CGB1 LHB SNRNP70 MIR6798 C19orf73 LIN7B CGB3 SNAR-G1 HRC TRPM4 CGB2 RUVBL2 PPFIA3 CGB5 CGB7 SNAR-G2 CGB8
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss SNORD34 SIGLEC11 SNAR-A5 DBP SULT2B1 SNAR-C5 ZNF473 SNAR-B2 PRMT1 KDELR1 RCN3 MIR4324 PRR12 TBC1D17 SNORD35B CGB2 MIR6799 SNORD32A SNORD35A SNAR-D PLA2G4C IRF3 NUP62 SPACA4 NTF4 TULP2 MIR150 SNAR-C3 SNAR-C1 SNAR-A6 PLEKHA4 SNAR-A14 MIR6800 GRIN2D PPP1R15A KCNJ14 FGF21 PTOV1-AS2 NOSIP SCAF1 MIR4751 NUCB1 SPHK2 LOC100287477 KCNA7 CYTH2 CCDC155 SNAR-A7 ATF5 SNAR-A12 SLC17A7 SYNGR4 BCAT2 RRAS VRK3 C19orf73 SNAR-A1 ZNF114 LIN7B PRRG2 SNAR-A9 SNAR-A8 EMP3 PPFIA3 DKKL1 FUZ LOC105447645 PTH2 BCL2L12 MIR5088 NTN5 SNRNP70 SNAR-A3 FAM83E SEC1P SNAR-G1 DHDH GFY CA11 TEAD2 CPT1C CCDC114 RPL18 SNAR-C2 CGB1 LOC101928295 MIR6798 SNORD33 SNAR-A13 CARD8 TMEM143 SIGLEC16 ADM5 TSKS MIR4750 GRWD1 CGB8 LOC101059948 MAMSTR ALDH16A1 CABP5 FUT1 LIG1 SNAR-A10 CARD8-AS1 RPS11 MIR4749 PNKP RASIP1 SNAR-C4 NUCB1-AS1 TRPM4 MED25 AKT1S1 PTOV1-AS1 LHB HSD17B14 SNAR-A11 LOC105372430 BSPH1 PTOV1 AP2A1 LMTK3 CGB3 SLC6A16 FUT2 IL4I1 FLT3LG FLJ26850 SNAR-A2 CGB5 CGB7 SNAR-G2 GYS1 FTL C19orf68 SNAR-A4 BAX FCGRT RPL13A SNAR-B1 CD37 PLA2G4C-AS1 HRC RUVBL2 ELSPBP1 PIH1D1 IZUMO1
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain GYS1 LOC101059948 FTL LHB BAX MIR6798 RUVBL2
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss KCNA7 GYS1 NTF4 LOC101059948 FTL CGB1 LHB SNRNP70 BAX MIR6798 C19orf73 LIN7B CGB3 SNAR-G1 DHDH NUCB1-AS1 CGB2 RUVBL2 PPFIA3 CGB5 CGB7 SNAR-G2 NUCB1 CGB8
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion KCNA7 GYS1 NTF4 LOC101059948 FTL CGB1 LHB SNRNP70 BAX MIR6798 CGB3 SNAR-G1 CGB2 RUVBL2 CGB5 CGB7 SNAR-G2 CGB8

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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

Gene Ontology Categories:

Function(s) Process(es)


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