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

Chr.1:146017576 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00059368_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 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HFE2 NM_001316767.1 4 1584 NP_001303696.1
NM_145277.4 3 1921 NP_660320.3
NM_202004.3 3 1398 NP_973733.1
NM_213652.3 2 1361 NP_998817.1
NM_213653.3 4 2107 NP_998818.1
XM_005272932.1 4 2038 XP_005272989.1
AA479148.1 1 111
AK092682.1 3 1831 BAC03944.1
AK092692.1 3 1282 BAC03947.1
AK096905.1 2 1273 BAC04890.1
AK124273.1 4 1991 BAC85823.1
AK223575.1 3 1841
AK292742.1
BC017926.1 3 1311 AAH17926.1
BC085604.1 3 1774 AAH85604.1

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

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