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

Chr.1:146018891 on build GRCh38
Cytoband
1q21.1
Assay ID Hs07226300_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Intron 3
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

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

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