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

Chr.1:146021718 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00058616_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:

 Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HFE2 NM_001316767.1 1 105 NP_001303696.1
NM_145277.4 1 105 NP_660320.3
NM_202004.3 1 105 NP_973733.1
NM_213652.3 1 105 NP_998817.1
NM_213653.3 1 105 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
BC017926.1 AAH17926.1
DA893500.1
DB035674.1 1 105

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

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