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

Chr.1:146018249 on build GRCh38
Cytoband
1q21.1
Assay ID Hs00136909_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 4 911 NP_001303696.1
NM_145277.4 3 1248 NP_660320.3
NM_202004.3 3 725 NP_973733.1
NM_213652.3 2 688 NP_998817.1
NM_213653.3 4 1434 NP_998818.1
XM_005272932.1 4 1365 XP_005272989.1
AK092682.1 3 1158 BAC03944.1
AK092692.1 3 609 BAC03947.1
AK096905.1 2 600 BAC04890.1
AK124273.1 4 1318 BAC85823.1
AK223575.1 3 1168
AK290831.1 3 1160
AK292742.1 4 1344
AK315852.1 3 1161
AY372521.1 3 1109 AAR22390.1
BC017926.1 3 638 AAH17926.1
BC085604.1 3 1101 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 LOC100505824 ANKRD34A LIX1L GNRHR2 HYDIN2 FMO5 ACP6 GPR89A NBPF12 NOTCH2NL RNVU1-6 PRKAB2 CH17-408M7.1 PDE4DIP TXNIP BCL9 LOC100132057 LOC728989 MIR6077 CD160 NBPF13P PPIAL4G LOC105371242 CHD1L RNF115 LOC101928979 RBM8A NBPF11 NBPF14 LOC105371226 LOC100996763 PDZK1 PEX11B RNVU1-7 RNVU1-1 RNVU1-8 GJA5 MIR5087 PIAS3 LINC00624 NUDT4P2 LOC284561 NUDT4P1 LOC101927468 MIR6736 RNVU1-3 ANKRD35 POLR3GL PDIA3P1 PDZK1P1 HFE2 GJA8 GPR89B LOC100996517 NBPF10 RNU1-13P ITGA10 POLR3C LINC01138 NUDT17
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion RNVU1-1 LOC100505824 RNVU1-8 GJA5 MIR5087 ANKRD34A LIX1L HYDIN2 FMO5 LINC00624 ACP6 NBPF12 NOTCH2NL NUDT4P2 LOC284561 RNVU1-6 PRKAB2 NUDT4P1 CH17-408M7.1 PDE4DIP LOC101927468 TXNIP RNVU1-3 BCL9 LOC100132057 POLR3GL PDIA3P1 LOC728989 MIR6077 PDZK1P1 HFE2 GJA8 GPR89B LOC100996517 NBPF13P PPIAL4G NBPF10 RNU1-13P LOC105371242 CHD1L LOC101928979 NBPF11 NBPF14 LOC105371226 LOC100996763 LINC01138 RNVU1-7
nsv2699 Chr.1:146018222 - 146052325 on Build GRCh38 Insertion RNVU1-6 HFE2
nsv831359 Chr.1:145983609 - 146147220 on Build GRCh38 Loss RNVU1-6 NBPF10 LOC101928979 HFE2 TXNIP

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