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

Chr.1:146018109 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00139108_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 1051 NP_001303696.1
NM_145277.4 3 1388 NP_660320.3
NM_202004.3 3 865 NP_973733.1
NM_213652.3 2 828 NP_998817.1
NM_213653.3 4 1574 NP_998818.1
XM_005272932.1 4 1505 XP_005272989.1
AK092682.1 3 1298 BAC03944.1
AK092692.1 3 749 BAC03947.1
AK096905.1 2 740 BAC04890.1
AK124273.1 4 1458 BAC85823.1
AK223575.1 3 1308
AK290831.1 3 1300
AK292742.1 4 1484
AK315852.1 3 1301
AY372521.1 AAR22390.1
BC017926.1 3 778 AAH17926.1
BC085604.1 3 1241 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 PIAS3 LOC100132057 GPR89B LINC01138 GNRHR2 RNVU1-7 BCL9 TXNIP NUDT4P1 CD160 PRKAB2 RNVU1-1 PDZK1 GPR89A LIX1L NOTCH2NL RNF115 LOC728989 ITGA10 LOC284561 RNVU1-8 RNVU1-6 PDIA3P1 GJA5 LOC101927468 LOC100996763 LOC100996517 MIR5087 PDZK1P1 FMO5 MIR6077 NBPF12 RNU1-13P NBPF13P RBM8A CHD1L CH17-408M7.1 LINC00624 NBPF14 LOC105371242 NUDT4P2 PDE4DIP HFE2 ACP6 LOC105371226 LOC100505824 HYDIN2 PEX11B ANKRD35 POLR3C GJA8 NBPF10 PPIAL4G POLR3GL MIR6736 RNVU1-3 NUDT17 LOC101928979 NBPF11 ANKRD34A
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion FMO5 LOC100132057 MIR6077 NBPF12 RNU1-13P NBPF13P GPR89B LINC01138 CHD1L CH17-408M7.1 RNVU1-7 BCL9 LINC00624 TXNIP NUDT4P1 NBPF14 LOC105371242 NUDT4P2 PDE4DIP HFE2 ACP6 PRKAB2 RNVU1-1 LIX1L LOC105371226 LOC100505824 HYDIN2 NOTCH2NL LOC728989 LOC284561 GJA8 RNVU1-8 RNVU1-6 PDIA3P1 NBPF10 PPIAL4G POLR3GL GJA5 RNVU1-3 LOC101927468 LOC100996763 LOC101928979 LOC100996517 MIR5087 PDZK1P1 NBPF11 ANKRD34A
nsv831359 Chr.1:145983609 - 146147220 on Build GRCh38 Loss RNVU1-6 NBPF10 TXNIP HFE2 LOC101928979

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