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

Chr.1:146021625 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00117499_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:

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

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