Genomic Map
Back To TopAssay 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 | 537 | NP_001303696.1 |
| NM_145277.4 | 3 | 874 | NP_660320.3 | |
| NM_202004.3 | 3 | 351 | NP_973733.1 | |
| NM_213652.3 | 2 | 314 | NP_998817.1 | |
| NM_213653.3 | 4 | 1060 | NP_998818.1 | |
| XM_005272932.1 | 4 | 991 | XP_005272989.1 | |
| AK092682.1 | 3 | 784 | BAC03944.1 | |
| AK092692.1 | 3 | 235 | BAC03947.1 | |
| AK096905.1 | 2 | 226 | BAC04890.1 | |
| AK124273.1 | 4 | 944 | BAC85823.1 | |
| AK223575.1 | 3 | 794 | ||
| AK290831.1 | 3 | 786 | ||
| AK292742.1 | 4 | 970 | ||
| AK315852.1 | 3 | 787 | ||
| AY372521.1 | 3 | 735 | AAR22390.1 | |
| BC017926.1 | 3 | 264 | AAH17926.1 | |
| BC085604.1 | 3 | 727 | AAH85604.1 | |
| DA893500.1 | 4 | 450 |
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 |
 RNF115
MIR6736
ANKRD34A
TXNIP
HFE2
RNU1-13P
NUDT17
NUDT4P1
NOTCH2NL
LOC284561
ACP6
LOC100132057
GPR89B
LOC100996763
LOC100505824
NBPF11
LOC728989
ANKRD35
MIR5087
CH17-408M7.1
FMO5
POLR3GL
GJA5
LINC00624
BCL9
LIX1L
PDIA3P1
NBPF14
PDZK1
LOC101928979
NBPF10
NUDT4P2
NBPF12
LOC100996517
PEX11B
CHD1L
POLR3C
LOC101927468
LOC105371226
PPIAL4G
RNVU1-6
RNVU1-8
PDE4DIP
GPR89A
GJA8
RNVU1-3
GNRHR2
RBM8A
LINC01138
HYDIN2
ITGA10
RNVU1-7
MIR6077
LOC105371242
CD160
NBPF13P
PDZK1P1
PRKAB2
RNVU1-1
PIAS3
|
| nsv509457 | Chr.1:145948024 - 149021821 on Build GRCh38 | Insertion |
NBPF14
LOC101928979
NBPF10
NUDT4P2
NBPF12
LOC100996517
ANKRD34A
TXNIP
CHD1L
HFE2
RNU1-13P
LOC101927468
LOC105371226
PPIAL4G
NUDT4P1
NOTCH2NL
LOC284561
ACP6
LOC100132057
RNVU1-6
GPR89B
RNVU1-8
PDE4DIP
LOC100996763
LOC100505824
NBPF11
LOC728989
GJA8
RNVU1-3
MIR5087
CH17-408M7.1
FMO5
POLR3GL
LINC01138
HYDIN2
RNVU1-7
MIR6077
GJA5
LINC00624
LOC105371242
NBPF13P
PDZK1P1
PRKAB2
BCL9
RNVU1-1
LIX1L
PDIA3P1
|
| nsv2699 | Chr.1:146018222 - 146052325 on Build GRCh38 | Insertion |
HFE2
RNVU1-6
|
| nsv831359 | Chr.1:145983609 - 146147220 on Build GRCh38 | Loss |
HFE2
LOC101928979
NBPF10
RNVU1-6
TXNIP
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
Back To Top