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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 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

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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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