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See other LOC100996517 CNV Assays ›
Gene Symbol
LOC100996517
Assay Reference Genome
Location

Chr.1:120163281 on build GRCh38
Cytoband
1p12
Assay ID Hs01586783_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 100996517

Gene Name:

 vesicle-trafficking protein SEC22b

Gene Aliases:

 -

Location:

 Chr.1:148766340-148786183 on Build GRCh38

Assay Gene Location:

 Within Exon 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
LOC100996517 XM_017003060.1 3 760 XP_016858549.1

Target Gene Details

Entrez Gene ID:

 100996716

Gene Name:

 vesicle-trafficking protein SEC22b

Gene Aliases:

 CH17-189H20.1

Location:

 Chr.1:149175714-149363915 on Build GRCh38

Assay Gene Location:

 Within Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
LOC100996716 XM_017003058.1 3 759 XP_016858547.1
XM_017003059.1 4 851 XP_016858548.1

Target Gene Details

Entrez Gene ID:

 9554

Gene Name:

 SEC22 homolog B, vesicle trafficking protein (gene/pseudogene)

Gene Aliases:

 ERS-24, SEC22L1

Location:

 Chr.1:120152520-120176534 on Build GRCh38

Assay Gene Location:

 Within Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SEC22B NM_004892.5 3 415 NP_004883.3
XM_017002856.1 3 428 XP_016858345.1
XM_017002857.1 3 857 XP_016858346.1
AF047442.1 3 339 AAC39893.1
AK289875.1 3 409
BC001364.2 3 394 AAH01364.1
CD619408.1 3 445

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv327n100 Chr.1:146028214 - 148860637 on Build GRCh38 Gain LOC100505824 LOC100132057 ACP6 LINC00624 LINC01138 LOC100996763 NBPF11 LOC105371226 RNVU1-6 NBPF14 PRKAB2 LOC105371242 PDE4DIP LOC101927468 BCL9 PPIAL4G GJA5 NOTCH2NL GJA8 MIR5087 RNVU1-7 RNU1-13P CHD1L LOC284561 RNVU1-3 RNVU1-1 LOC101928979 NBPF13P NUDT4P2 MIR6077 NBPF10 GPR89B HYDIN2 PDZK1P1 PDIA3P1 NUDT4P1 LOC728989 NBPF12 CH17-408M7.1 RNVU1-8 FMO5 LOC100996517
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss RBM8A LINC01138 POLR3C NBPF11 LOC105371226 RNVU1-6 NBPF14 PDE4DIP PPIAL4G PEX11B GJA5 NOTCH2NL TXNIP PDZK1 GJA8 MIR5087 LOC284561 RNVU1-1 MIR6736 ITGA10 NBPF13P NUDT4P2 HFE2 GNRHR2 MIR6077 NBPF10 GPR89B HYDIN2 PDZK1P1 NUDT4P1 LOC728989 NBPF12 CH17-408M7.1 RNVU1-8 ANKRD34A FMO5 CD160 LOC100505824 LIX1L LOC100132057 ACP6 NUDT17 LINC00624 LOC100996763 PRKAB2 LOC105371242 LOC101927468 BCL9 RNVU1-7 RNU1-13P CHD1L RNVU1-3 ANKRD35 LOC101928979 GPR89A POLR3GL PDIA3P1 PIAS3 LOC100996517 RNF115
dgv326n100 Chr.1:148774675 - 148889555 on Build GRCh38 Gain LOC100996517 PDE4DIP
esv2581967 Chr.1:148768990 - 148790234 on Build GRCh38 Gain LOC100996517
dgv324n100 Chr.1:148736158 - 148934526 on Build GRCh38 Gain NUDT4P1 LOC100996517 PDE4DIP
dgv17n16 Chr.1:148696576 - 148805441 on Build GRCh38 Deletion NUDT4P1 LOC100996763 LOC100996517
nsv946952 Chr.1:148577301 - 149056658 on Build GRCh38 Duplication NBPF9 NUDT4P1 LOC100996763 LOC100996517 NBPF14 PDE4DIP
nsv1132304 Chr.1:146186094 - 148977674 on Build GRCh38 Duplication LOC100505824 LOC100132057 ACP6 LINC00624 LINC01138 LOC100996763 NBPF11 LOC105371226 NBPF14 PRKAB2 LOC105371242 PDE4DIP LOC101927468 BCL9 PPIAL4G GJA5 NOTCH2NL GJA8 MIR5087 RNVU1-7 RNU1-13P CHD1L LOC284561 RNVU1-3 RNVU1-1 NBPF13P NUDT4P2 MIR6077 GPR89B HYDIN2 PDZK1P1 PDIA3P1 NUDT4P1 LOC728989 NBPF12 CH17-408M7.1 RNVU1-8 FMO5 LOC100996517
nsv1003688 Chr.1:146036817 - 148934526 on Build GRCh38 Gain LOC100505824 LOC100132057 ACP6 LINC00624 LINC01138 LOC100996763 NBPF11 LOC105371226 RNVU1-6 NBPF14 PRKAB2 LOC105371242 PDE4DIP LOC101927468 BCL9 PPIAL4G GJA5 NOTCH2NL GJA8 MIR5087 RNVU1-7 RNU1-13P CHD1L LOC284561 RNVU1-3 RNVU1-1 LOC101928979 NBPF13P NUDT4P2 MIR6077 NBPF10 GPR89B HYDIN2 PDZK1P1 PDIA3P1 NUDT4P1 LOC728989 NBPF12 CH17-408M7.1 RNVU1-8 FMO5 LOC100996517
dgv66e199 Chr.1:146055970 - 149056514 on Build GRCh38 Deletion LOC100505824 LOC100132057 ACP6 LINC00624 LINC01138 LOC100996763 NBPF11 LOC105371226 NBPF14 PRKAB2 LOC105371242 PDE4DIP LOC101927468 BCL9 PPIAL4G GJA5 NBPF9 NOTCH2NL GJA8 MIR5087 RNVU1-7 RNU1-13P CHD1L LOC284561 RNVU1-3 RNVU1-1 LOC101928979 NBPF13P NUDT4P2 MIR6077 NBPF10 GPR89B HYDIN2 PDZK1P1 PDIA3P1 NUDT4P1 LOC728989 NBPF12 CH17-408M7.1 RNVU1-8 FMO5 LOC100996517
dgv328n100 Chr.1:148598832 - 148804379 on Build GRCh38 Gain NUDT4P1 LOC100996763 LOC100996517 NBPF14
nsv1077297 Chr.1:148761929 - 148791400 on Build GRCh38 Duplication LOC100996517
nsv1141148 Chr.1:148761729 - 148791399 on Build GRCh38 Duplication LOC100996517
esv2761299 Chr.1:146068341 - 148926801 on Build GRCh38 Gain+Loss LOC100505824 LOC100132057 ACP6 LINC00624 LINC01138 LOC100996763 NBPF11 LOC105371226 NBPF14 PRKAB2 LOC105371242 PDE4DIP LOC101927468 BCL9 PPIAL4G GJA5 NOTCH2NL GJA8 MIR5087 RNVU1-7 RNU1-13P CHD1L LOC284561 RNVU1-3 RNVU1-1 NBPF13P NUDT4P2 MIR6077 NBPF10 GPR89B HYDIN2 PDZK1P1 PDIA3P1 NUDT4P1 LOC728989 NBPF12 CH17-408M7.1 RNVU1-8 FMO5 LOC100996517
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion LOC100505824 LIX1L LOC100132057 ACP6 LINC00624 LINC01138 LOC100996763 NBPF11 LOC105371226 RNVU1-6 NBPF14 PRKAB2 LOC105371242 PDE4DIP LOC101927468 BCL9 PPIAL4G GJA5 NOTCH2NL TXNIP GJA8 MIR5087 RNVU1-7 RNU1-13P CHD1L LOC284561 RNVU1-3 RNVU1-1 LOC101928979 NBPF13P NUDT4P2 HFE2 MIR6077 NBPF10 GPR89B HYDIN2 PDZK1P1 POLR3GL PDIA3P1 NUDT4P1 LOC728989 NBPF12 CH17-408M7.1 RNVU1-8 ANKRD34A FMO5 LOC100996517
nsv946254 Chr.1:148752296 - 148791404 on Build GRCh38 Duplication NUDT4P1 LOC100996517
nsv1005230 Chr.1:148737400 - 149018844 on Build GRCh38 Gain NUDT4P1 LOC100996517 PDE4DIP

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