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

Chr.1:146020129 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00070265_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 2 - Intron 2
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
AK092682.1 BAC03944.1
AK092692.1 BAC03947.1
AK096905.1 BAC04890.1
AK124273.1 BAC85823.1
AK223575.1
AK290831.1
AK292742.1
AK315852.1
AY372521.1 AAR22390.1
BC017926.1 AAH17926.1
BC085604.1 AAH85604.1
DA893500.1
DB035674.1

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 GNRHR2 LOC101927468 LOC100996763 PDZK1P1 LOC728989 ITGA10 MIR6077 RNVU1-7 NBPF13P POLR3GL LOC284561 PIAS3 NUDT17 GJA8 PPIAL4G PRKAB2 FMO5 MIR6736 NBPF14 LINC00624 GPR89A LOC100505824 HYDIN2 HFE2 LOC105371226 NBPF11 RBM8A LOC105371242 RNVU1-6 RNVU1-1 PDE4DIP ACP6 PEX11B NUDT4P1 GPR89B NUDT4P2 CD160 CH17-408M7.1 LOC101928979 LOC100132057 ANKRD34A RNF115 PDZK1 NBPF10 POLR3C LOC100996517 CHD1L TXNIP MIR5087 NOTCH2NL GJA5 BCL9 LINC01138 PDIA3P1 LIX1L RNVU1-8 RNU1-13P RNVU1-3 NBPF12 ANKRD35
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion LOC101927468 LOC100996763 PDZK1P1 LOC728989 NUDT4P1 GPR89B NUDT4P2 MIR6077 RNVU1-7 NBPF13P POLR3GL CH17-408M7.1 LOC284561 LOC101928979 GJA8 LOC100132057 ANKRD34A PPIAL4G PRKAB2 FMO5 NBPF14 NBPF10 LINC00624 LOC100996517 CHD1L TXNIP LOC100505824 MIR5087 HYDIN2 HFE2 NOTCH2NL GJA5 LOC105371226 NBPF11 BCL9 LINC01138 PDIA3P1 LOC105371242 LIX1L RNVU1-6 RNVU1-1 RNVU1-8 RNU1-13P PDE4DIP RNVU1-3 ACP6 NBPF12
nsv2699 Chr.1:146018222 - 146052325 on Build GRCh38 Insertion RNVU1-6 HFE2
nsv831359 Chr.1:145983609 - 146147220 on Build GRCh38 Loss NBPF10 RNVU1-6 TXNIP LOC101928979 HFE2

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