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

Chr.19:49009791 on build GRCh38
Cytoband
19q13.33
Assay ID Hs01753421_cn
Size
Availability Made To Order
Catalog # 4400291
Price 4,496.00
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4496.0
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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 7 - Exon 8
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 NTF4 CGB2 KCNA7 MIR6798 CGB1 LHB CGB8 SNRNP70 HRC SNAR-G2 C19orf73 TRPM4 CGB3 SNAR-G1 CGB7 LIN7B LOC101059948 RUVBL2 PPFIA3 CGB5
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss BSPH1 DKKL1 CD37 DHDH PPP1R15A GRIN2D SNAR-B1 ALDH16A1 C19orf68 SPHK2 SNAR-G1 EMP3 SNAR-A2 SNORD33 PPFIA3 PLA2G4C-AS1 PTOV1-AS1 SNAR-C5 MIR6800 SNORD32A LOC101928295 SNAR-A9 ZNF473 CABP5 MIR6799 DBP NUP62 MIR5088 BCAT2 SNAR-C3 TULP2 AKT1S1 MIR4751 PTH2 PRR12 SNAR-C2 CGB1 RASIP1 TSKS CARD8 BAX SIGLEC11 SNAR-A10 CGB7 CA11 PIH1D1 PTOV1-AS2 MIR4324 SNAR-A14 SNAR-A13 IL4I1 SNAR-B2 GYS1 MAMSTR HRC CYTH2 NUCB1 SNAR-A6 SNAR-G2 SNAR-A4 RPL13A SNAR-A11 FGF21 FLT3LG SNAR-A8 SNAR-A12 PLEKHA4 RPL18 LOC105372430 SNAR-C1 KDELR1 CARD8-AS1 SNAR-C4 NTF4 GFY MED25 LHB CCDC155 TEAD2 SNRNP70 CPT1C SYNGR4 IRF3 MIR4749 CCDC114 SULT2B1 TMEM143 AP2A1 ATF5 PLA2G4C CGB5 SNAR-A3 SNORD35B CGB2 FCGRT SPACA4 LMTK3 HSD17B14 FTL KCNJ14 LOC100287477 C19orf73 MIR150 SIGLEC16 SLC6A16 LIN7B SNAR-A1 RCN3 SNAR-A7 RUVBL2 ADM5 PTOV1 KCNA7 MIR6798 FUT2 SLC17A7 VRK3 FUZ NOSIP PRMT1 BCL2L12 RRAS FAM83E SNORD34 MIR4750 ELSPBP1 IZUMO1 FUT1 CGB8 PRRG2 FLJ26850 TBC1D17 ZNF114 SNORD35A PNKP SNAR-D TRPM4 CGB3 LIG1 GRWD1 LOC101059948 NUCB1-AS1 RPS11 SCAF1 LOC105447645 SNAR-A5 SEC1P NTN5
dgv3618n100 Chr.19:48948950 - 49021211 on Build GRCh38 Gain LOC101059948 MIR6798 RUVBL2 LHB GYS1 FTL BAX
nsv833857 Chr.19:48914476 - 49146320 on Build GRCh38 Loss NTF4 CGB2 KCNA7 MIR6798 CGB1 LHB CGB8 SNRNP70 DHDH GYS1 FTL NUCB1 BAX SNAR-G2 C19orf73 CGB3 SNAR-G1 CGB7 LIN7B LOC101059948 NUCB1-AS1 RUVBL2 PPFIA3 CGB5
nsv953598 Chr.19:48957644 - 49085143 on Build GRCh38 Deletion NTF4 CGB2 KCNA7 MIR6798 CGB1 LHB CGB8 SNRNP70 GYS1 FTL BAX SNAR-G2 CGB3 SNAR-G1 CGB7 LOC101059948 RUVBL2 CGB5

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More Information


Additional Information:

For this assay, SNP(s) [rs115058775] 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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