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See other HFE2 CNV Assays ›
Gene Symbol
HFE2
Assay Reference Genome
Location

Chr.1:146017450 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00098442_cn
Size
Availability Made To Order
Catalog # 4400291
Price 4,505.00
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Online offer:
4505.0
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Assay Details

Target Gene Details

Entrez Gene ID:

 148738

Gene Name:

 hemochromatosis type 2 (juvenile)

Gene Aliases:

 HFE2A, HJV, JH, RGMC

Location:

 Chr.1:146017468-146021822 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HFE2 NM_001316767.1 NP_001303696.1
NM_145277.4 NP_660320.3
NM_202004.3 NP_973733.1
NM_213652.3 NP_998817.1
NM_213653.3 NP_998818.1
XM_005272932.1 XP_005272989.1
AA479148.1
AK092682.1 BAC03944.1
AK092692.1 BAC03947.1
AK096905.1 BAC04890.1
AK124273.1 BAC85823.1
AK223575.1
BC017926.1 AAH17926.1
BC085604.1 AAH85604.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1005055 Chr.1:145642988 - 148991068 on Build GRCh38 Loss MIR5087 GJA8 LOC284561 RNVU1-8 RNVU1-1 NUDT17 NUDT4P2 RNVU1-3 RNF115 NUDT4P1 NBPF13P PDZK1 LOC100505824 MIR6077 NOTCH2NL GJA5 NBPF10 LOC105371226 TXNIP CHD1L PDIA3P1 POLR3C RNU1-13P GPR89A NBPF12 ANKRD35 PDZK1P1 RNVU1-7 PIAS3 NBPF14 ITGA10 LINC00624 GPR89B LOC100996517 GNRHR2 LIX1L PDE4DIP LOC101928979 LOC100996763 PPIAL4G PEX11B PRKAB2 BCL9 NBPF11 LOC728989 RBM8A RNVU1-6 HYDIN2 MIR6736 LOC105371242 POLR3GL HFE2 ACP6 ANKRD34A LOC101927468 FMO5 LOC100132057 CD160 LINC01138 CH17-408M7.1
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion NBPF12 PDZK1P1 MIR5087 RNVU1-7 GJA8 LOC284561 RNVU1-8 RNVU1-1 NBPF14 NUDT4P2 LINC00624 GPR89B RNVU1-3 LOC100996517 NUDT4P1 LIX1L PDE4DIP LOC101928979 NBPF13P LOC100996763 PPIAL4G PRKAB2 BCL9 NBPF11 LOC728989 RNVU1-6 HYDIN2 LOC105371242 POLR3GL HFE2 ACP6 LOC100505824 ANKRD34A LOC101927468 MIR6077 NOTCH2NL GJA5 NBPF10 FMO5 LOC105371226 LOC100132057 TXNIP CHD1L LINC01138 PDIA3P1 CH17-408M7.1 RNU1-13P
nsv831359 Chr.1:145983609 - 146147220 on Build GRCh38 Loss RNVU1-6 LOC101928979 TXNIP HFE2 NBPF10

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