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

Chr.1:146020340 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00134634_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 Intron 1 - Exon 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
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 NBPF12 LOC100505824 NUDT17 NUDT4P1 BCL9 PDZK1P1 PEX11B NBPF13P PPIAL4G GNRHR2 MIR6077 MIR6736 ACP6 GJA8 FMO5 RNF115 RNVU1-8 PDE4DIP PDIA3P1 PRKAB2 NBPF11 POLR3C RBM8A LOC728989 NBPF14 ITGA10 LOC101927468 RNVU1-3 LINC00624 LOC100132057 GJA5 LOC105371226 RNU1-13P MIR5087 CH17-408M7.1 PDZK1 GPR89A NBPF10 RNVU1-1 HYDIN2 LOC284561 NUDT4P2 TXNIP LOC101928979 RNVU1-6 CD160 NOTCH2NL LOC100996517 LOC100996763 RNVU1-7 CHD1L POLR3GL PIAS3 LINC01138 GPR89B HFE2 LIX1L ANKRD35 LOC105371242 ANKRD34A
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion NBPF12 MIR5087 CH17-408M7.1 LOC100505824 NUDT4P1 BCL9 PDZK1P1 NBPF10 RNVU1-1 NBPF13P PPIAL4G HYDIN2 LOC284561 MIR6077 NUDT4P2 ACP6 TXNIP LOC101928979 GJA8 RNVU1-6 FMO5 NOTCH2NL RNVU1-8 PDE4DIP LOC100996517 PDIA3P1 PRKAB2 LOC100996763 RNVU1-7 CHD1L NBPF11 LOC728989 POLR3GL NBPF14 LINC01138 LOC101927468 GPR89B HFE2 LIX1L RNVU1-3 LINC00624 LOC100132057 GJA5 LOC105371242 LOC105371226 RNU1-13P ANKRD34A
nsv2699 Chr.1:146018222 - 146052325 on Build GRCh38 Insertion HFE2 RNVU1-6
nsv831359 Chr.1:145983609 - 146147220 on Build GRCh38 Loss LOC101928979 HFE2 RNVU1-6 NBPF10 TXNIP

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