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

Chr.1:146017903 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00040319_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 Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HFE2 NM_001316767.1 4 1257 NP_001303696.1
NM_145277.4 3 1594 NP_660320.3
NM_202004.3 3 1071 NP_973733.1
NM_213652.3 2 1034 NP_998817.1
NM_213653.3 4 1780 NP_998818.1
XM_005272932.1 4 1711 XP_005272989.1
AA479148.1
AK092682.1 3 1504 BAC03944.1
AK092692.1 3 955 BAC03947.1
AK096905.1 2 946 BAC04890.1
AK124273.1 4 1664 BAC85823.1
AK223575.1 3 1514
AK292742.1 4 1690
AK315852.1
BC017926.1 3 984 AAH17926.1
BC085604.1 3 1447 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 RNVU1-8 LOC100996517 LOC100996763 HYDIN2 RBM8A NOTCH2NL NBPF14 ITGA10 PDIA3P1 RNF115 TXNIP FMO5 PEX11B LOC101928979 ANKRD35 MIR5087 MIR6077 NUDT17 NBPF10 NBPF13P POLR3C PDE4DIP LOC105371226 NBPF11 LOC728989 CH17-408M7.1 GPR89A PDZK1 RNVU1-1 PPIAL4G POLR3GL LOC284561 CD160 LOC101927468 HFE2 RNVU1-6 LOC105371242 BCL9 RNVU1-3 NUDT4P1 PDZK1P1 GPR89B MIR6736 PRKAB2 LINC01138 CHD1L GNRHR2 LOC100132057 NBPF12 LOC100505824 ACP6 RNVU1-7 LIX1L GJA8 NUDT4P2 RNU1-13P PIAS3 GJA5 LINC00624 ANKRD34A
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion RNVU1-8 LOC100996517 RNVU1-1 PPIAL4G POLR3GL LOC284561 LOC101927468 HFE2 LOC100996763 RNVU1-6 HYDIN2 NOTCH2NL NBPF14 PDIA3P1 LOC105371242 BCL9 RNVU1-3 NUDT4P1 TXNIP PDZK1P1 FMO5 LOC101928979 MIR5087 GPR89B MIR6077 PRKAB2 LINC01138 CHD1L LOC100132057 NBPF12 LOC100505824 NBPF10 NBPF13P ACP6 PDE4DIP LOC105371226 RNVU1-7 LIX1L GJA8 NBPF11 LOC728989 NUDT4P2 RNU1-13P CH17-408M7.1 GJA5 LINC00624 ANKRD34A
nsv831359 Chr.1:145983609 - 146147220 on Build GRCh38 Loss TXNIP HFE2 RNVU1-6 LOC101928979 NBPF10

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