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

Chr.1:146018185 on build GRCh38
Cytoband
1q21.1
Assay ID Hs07226301_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 4 975 NP_001303696.1
NM_145277.4 3 1312 NP_660320.3
NM_202004.3 3 789 NP_973733.1
NM_213652.3 2 752 NP_998817.1
NM_213653.3 4 1498 NP_998818.1
XM_005272932.1 4 1429 XP_005272989.1
AK092682.1 3 1222 BAC03944.1
AK092692.1 3 673 BAC03947.1
AK096905.1 2 664 BAC04890.1
AK124273.1 4 1382 BAC85823.1
AK223575.1 3 1232
AK290831.1 3 1224
AK292742.1 4 1408
AK315852.1 3 1225
AY372521.1 3 1173 AAR22390.1
BC017926.1 3 702 AAH17926.1
BC085604.1 3 1165 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 HYDIN2 GJA5 ANKRD35 RBM8A GJA8 LOC284561 NUDT17 RNVU1-8 LOC100996517 PRKAB2 LOC105371226 GNRHR2 PIAS3 ITGA10 LIX1L CD160 NUDT4P2 NBPF14 CHD1L LOC105371242 RNU1-13P PDZK1P1 POLR3GL NOTCH2NL MIR6736 LINC01138 LOC100996763 NBPF11 BCL9 POLR3C LINC00624 LOC100132057 RNVU1-6 NBPF10 PDIA3P1 RNF115 GPR89A LOC728989 RNVU1-3 PPIAL4G PEX11B ANKRD34A PDZK1 NBPF13P PDE4DIP MIR5087 ACP6 CH17-408M7.1 TXNIP MIR6077 RNVU1-7 LOC100505824 LOC101928979 NUDT4P1 NBPF12 GPR89B FMO5 HFE2 LOC101927468 RNVU1-1
nsv509457 Chr.1:145948024 - 149021821 on Build GRCh38 Insertion HYDIN2 LOC100132057 GJA5 RNVU1-6 NBPF10 PDIA3P1 GJA8 LOC728989 RNVU1-3 PPIAL4G LOC284561 ANKRD34A RNVU1-8 LOC100996517 NBPF13P PDE4DIP MIR5087 ACP6 PRKAB2 LOC105371226 CH17-408M7.1 TXNIP MIR6077 LIX1L NUDT4P2 RNVU1-7 LOC100505824 LOC101928979 NBPF14 CHD1L LOC105371242 RNU1-13P PDZK1P1 NUDT4P1 POLR3GL NOTCH2NL NBPF12 GPR89B FMO5 HFE2 LOC101927468 LINC01138 LOC100996763 NBPF11 BCL9 RNVU1-1 LINC00624
nsv2699 Chr.1:146018222 - 146052325 on Build GRCh38 Insertion HFE2 RNVU1-6
nsv831359 Chr.1:145983609 - 146147220 on Build GRCh38 Loss HFE2 RNVU1-6 NBPF10 LOC101928979 TXNIP

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