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

Chr.1:146019109 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00135360_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 LINC00624 PPIAL4G ANKRD35 LIX1L POLR3C NOTCH2NL GPR89B PRKAB2 RNVU1-7 MIR6077 NBPF11 PEX11B LINC01138 LOC105371226 RNVU1-1 MIR5087 CHD1L LOC100996517 LOC105371242 RNU1-13P NBPF13P RNVU1-6 ANKRD34A LOC101928979 FMO5 NUDT4P2 NUDT17 NBPF10 LOC100505824 PDZK1 PDIA3P1 LOC284561 PDZK1P1 BCL9 LOC100996763 NBPF14 TXNIP LOC100132057 GJA5 NBPF12 LOC728989 ITGA10 RNVU1-8 GNRHR2 POLR3GL PDE4DIP HYDIN2 CD160 PIAS3 GPR89A HFE2 ACP6 RNF115 CH17-408M7.1 GJA8 RNVU1-3 LOC101927468 MIR6736 NUDT4P1 RBM8A
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion LINC00624 PDZK1P1 PPIAL4G BCL9 LOC100996763 NBPF14 LIX1L NOTCH2NL TXNIP GPR89B LOC100132057 GJA5 NBPF12 PRKAB2 RNVU1-7 MIR6077 LOC728989 NBPF11 RNVU1-8 LINC01138 LOC105371226 RNVU1-1 MIR5087 POLR3GL CHD1L PDE4DIP LOC100996517 HYDIN2 LOC105371242 RNU1-13P HFE2 NBPF13P ACP6 RNVU1-6 ANKRD34A LOC101928979 CH17-408M7.1 GJA8 RNVU1-3 LOC101927468 FMO5 NUDT4P2 NBPF10 LOC100505824 NUDT4P1 PDIA3P1 LOC284561
nsv2699 Chr.1:146018222 - 146052325 on Build GRCh38 Insertion HFE2 RNVU1-6
nsv831359 Chr.1:145983609 - 146147220 on Build GRCh38 Loss HFE2 RNVU1-6 TXNIP NBPF10 LOC101928979

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