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

Chr.1:146019681 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00092791_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 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HFE2 NM_001316767.1 NP_001303696.1
NM_145277.4 2 290 NP_660320.3
NM_202004.3 NP_973733.1
NM_213652.3 NP_998817.1
NM_213653.3 3 476 NP_998818.1
XM_005272932.1 3 407 XP_005272989.1
AK092682.1 2 203 BAC03944.1
AK092692.1 BAC03947.1
AK096905.1 BAC04890.1
AK124273.1 3 360 BAC85823.1
AK223575.1 2 210
AK290831.1 2 202
AK292742.1 3 386
AK315852.1 2 203
AY372521.1 2 151 AAR22390.1
BC017926.1 AAH17926.1
BC085604.1 2 143 AAH85604.1
DA893500.1
DB035674.1 2 290

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

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