Genomic Map
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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 7 |
| 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 |
 CGB2
SNAR-G1
TRPM4
CGB7
C19orf73
PPFIA3
SNRNP70
CGB8
KCNA7
RUVBL2
HRC
LIN7B
NTF4
SNAR-G2
CGB5
MIR6798
LHB
CGB3
LOC101059948
CGB1
|
| nsv9739 | Chr.19:47901840 - 50143063 on Build GRCh38 | Gain+Loss |
MIR5088
NUCB1-AS1
FLT3LG
MIR150
SIGLEC16
SNORD35A
SNAR-B2
SNAR-A9
RRAS
LOC105447645
SNAR-A4
NUCB1
RPS11
SNAR-G2
GRWD1
ELSPBP1
EMP3
AP2A1
CYTH2
PNKP
RASIP1
SNAR-A14
SNAR-A3
SNAR-G1
SLC17A7
SNORD34
SNAR-A13
CGB7
FCGRT
CCDC155
LMTK3
CARD8
NOSIP
RPL18
DKKL1
SULT2B1
SNAR-C2
CD37
FTL
MIR6798
LHB
SNAR-A7
SNAR-A1
LOC101059948
CGB2
PLEKHA4
PTOV1-AS1
FAM83E
PPFIA3
MIR4749
BSPH1
TBC1D17
PLA2G4C-AS1
DBP
SNAR-C5
SLC6A16
ADM5
HRC
GYS1
RPL13A
CA11
SNAR-A11
AKT1S1
FUT1
ZNF114
CCDC114
PTH2
BCL2L12
MED25
SIGLEC11
VRK3
PPP1R15A
MIR4750
SNAR-C3
IL4I1
MIR6800
LOC105372430
NTN5
SNAR-A10
SNAR-D
CGB5
FGF21
KCNJ14
PRMT1
TEAD2
TMEM143
SNAR-A5
ZNF473
GRIN2D
MIR4324
TULP2
RUVBL2
NTF4
SNAR-C1
GFY
HSD17B14
BAX
PRRG2
MAMSTR
SNRNP70
CGB8
PRR12
SNORD33
SNAR-A12
KCNA7
SNAR-A2
TSKS
KDELR1
FUZ
LOC101928295
PTOV1-AS2
PTOV1
CGB3
MIR6799
MIR4751
PIH1D1
SNORD32A
LIG1
CABP5
TRPM4
CPT1C
C19orf68
SPACA4
FLJ26850
LIN7B
IZUMO1
NUP62
PLA2G4C
IRF3
SCAF1
DHDH
SYNGR4
RCN3
SNAR-A6
FUT2
SNAR-A8
C19orf73
SNAR-C4
BCAT2
LOC100287477
SNAR-B1
CARD8-AS1
SNORD35B
ALDH16A1
ATF5
SEC1P
SPHK2
CGB1
|
| dgv3618n100 | Chr.19:48948950 - 49021211 on Build GRCh38 | Gain |
BAX
RUVBL2
GYS1
FTL
MIR6798
LHB
LOC101059948
|
| nsv833857 | Chr.19:48914476 - 49146320 on Build GRCh38 | Loss |
CGB2
BAX
SNAR-G1
NUCB1-AS1
CGB7
C19orf73
PPFIA3
SNRNP70
CGB8
KCNA7
NUCB1
RUVBL2
LIN7B
NTF4
GYS1
SNAR-G2
CGB5
DHDH
FTL
MIR6798
LHB
CGB3
LOC101059948
CGB1
|
| nsv953598 | Chr.19:48957644 - 49085143 on Build GRCh38 | Deletion |
CGB2
BAX
SNAR-G1
CGB7
SNRNP70
CGB8
KCNA7
RUVBL2
NTF4
GYS1
SNAR-G2
CGB5
FTL
MIR6798
LHB
CGB3
LOC101059948
CGB1
|
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Additional Information:
For this assay, SNP(s) [rs77078012] 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:
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