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

Chr.19:49002937 on build GRCh38
Cytoband
19q13.33
Assay ID Hs04011395_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:

 Within Intron 3
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 LHB SNAR-G1 RUVBL2 CGB3 LOC101059948 HRC C19orf73 PPFIA3 SNRNP70 CGB1 SNAR-G2 KCNA7 CGB2 LIN7B CGB7 CGB8 MIR6798 TRPM4 CGB5 NTF4
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss NUCB1-AS1 RUVBL2 PTOV1-AS2 CARD8 PIH1D1 ADM5 SNAR-C5 LMTK3 NTN5 DBP DKKL1 MAMSTR LIG1 CCDC114 SNAR-A11 SNAR-A10 LOC105447645 C19orf68 SNAR-B2 SNAR-A1 LOC105372430 SNAR-G1 PLA2G4C SULT2B1 LOC101059948 MIR4324 SPACA4 FUZ MIR5088 MED25 KDELR1 CGB8 SNAR-A13 MIR4750 SNORD35B PNKP SNAR-C4 NUP62 SNORD34 SNAR-A7 SIGLEC16 FUT2 AKT1S1 CGB1 AP2A1 SNAR-C1 SNORD32A LOC100287477 ELSPBP1 NTF4 PTOV1 TULP2 CCDC155 MIR150 SPHK2 PRR12 GFY SNAR-A3 FLT3LG GRIN2D SNAR-G2 CGB2 SNAR-A9 TSKS MIR6798 TRPM4 FUT1 MIR4749 SNAR-A12 PRRG2 CABP5 RPL13A CA11 PPFIA3 PLA2G4C-AS1 SNRNP70 ATF5 CPT1C KCNA7 SNAR-A14 PTOV1-AS1 BCAT2 FAM83E PTH2 PLEKHA4 CGB5 FCGRT SNAR-A5 PPP1R15A HRC C19orf73 NUCB1 IL4I1 SNAR-A6 HSD17B14 SNAR-A4 ALDH16A1 RPL18 SNAR-D LOC101928295 CYTH2 IZUMO1 NOSIP MIR6800 SCAF1 MIR4751 EMP3 LHB RASIP1 ZNF473 CGB3 SNORD35A FTL DHDH SEC1P TMEM143 SNAR-A2 SNAR-C2 SLC17A7 CD37 LIN7B CARD8-AS1 IRF3 SLC6A16 SNAR-B1 SNORD33 CGB7 ZNF114 BAX KCNJ14 GRWD1 MIR6799 BSPH1 SNAR-C3 SIGLEC11 RCN3 RRAS RPS11 GYS1 SYNGR4 BCL2L12 FGF21 FLJ26850 SNAR-A8 TEAD2 VRK3 TBC1D17 PRMT1
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain LHB RUVBL2 GYS1 FTL LOC101059948 MIR6798 BAX
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss NUCB1-AS1 LHB SNAR-G1 RUVBL2 CGB3 FTL LOC101059948 C19orf73 NUCB1 PPFIA3 DHDH SNRNP70 CGB1 SNAR-G2 KCNA7 CGB2 GYS1 LIN7B CGB7 CGB8 MIR6798 BAX CGB5 NTF4
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion LHB SNAR-G1 RUVBL2 CGB3 FTL LOC101059948 SNRNP70 CGB1 SNAR-G2 KCNA7 CGB2 GYS1 CGB7 CGB8 MIR6798 BAX CGB5 NTF4

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More Information


Additional Information:

For this assay, SNP(s) [rs111856338] 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

Gene Ontology Categories:

Function(s) Process(es)


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