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HFE
'Hereditary Haemochromatosis Gene'
Gene ID: 3077; Protein
ID: Q30201
M.Tevfik DORAK, MD PhD
Chromosome
6p21.3 location 26,195,427 - 26,205,046
Entrez Gene
OMIM NCBI BookShelf
NCBI Map Viewer (HFE) NCBI Map Viewer (HFE & Histon Clusters)
dbSNP (all SNPs) dbSNP (cSNPs only) Map Viewer Variation View (all SDNPs)
Ensembl (isoform 16348) Vega Ensembl Map
GeneAtlas
UCSC Browser
Human
Genetic Mutations Database
Reference
Sequences: Genomic
mRNA Protein
GeneCards
GeneNote
UniGene
GDB iHOP
UniProt / SwissProt Structure 1
Structure 2
HomoloGene
PubMed Search Google Search Medline Plus
Hereditary
Haemochromatosis:
Genes and Disease Gene Reviews
CDC NHGRI Iron Disorders Institute
Literature
Feder et al. Discovery of HFE. Nature Genet 1996
Hanson et al. Hereditary Hemochromatosis (HuGE Review).
AJE 2001
Dorak et al. HFE and Childhood Leukaemia (HuGE Review).
Genet Med 2005
Toomajian & Martin Kreitman. HFE Haplotype Structure.
Genetics 2002
Coding Region SNPs within the HFE Gene (NCBI
dbSNP Build 126)
Region |
Contig |
mRNA |
dbSNP rs# |
Hetero- |
Function |
dbSNP |
Protein |
Codon |
Amino acid |
exon_2 |
16949347 |
325 |
N.D. |
nonsynonymous |
C |
Thr
[T] |
2 |
35 |
|
|
|
|
|
N.D. |
contig
reference |
T |
Met
[M] |
2 |
35 |
|
16949430 |
408 |
0.139 |
nonsynonymous |
G |
Asp [D] |
1 |
63 |
|
|
|
|
|
0.139 |
contig
reference |
C |
His [H] |
1 |
63 |
|
16949436 |
414 |
N.D. |
nonsynonymous |
T |
Cys
[C] |
1 |
65 |
|
|
|
|
|
N.D. |
contig
reference |
A |
Ser
[S] |
1 |
65 |
|
16949520 |
498 |
N.D. |
nonsynonymous |
C |
Arg
[R] |
1 |
93 |
|
|
|
|
|
N.D. |
contig
reference |
G |
Gly
[G] |
1 |
93 |
|
16949557 |
535 |
N.D. |
nonsynonymous |
C |
Thr
[T] |
2 |
105 |
|
|
|
|
|
N.D. |
contig
reference |
T |
Ile
[I] |
2 |
105 |
exon_3 |
16949833 |
602 |
N.D. |
nonsynonymous |
C |
His
[H] |
3 |
127 |
|
|
|
|
|
N.D. |
contig
reference |
A |
Gln
[Q] |
3 |
127 |
exon_4 |
16951197 |
871 |
0.005 |
nonsynonymous |
T |
Ile
[I] |
2 |
217 |
|
|
|
|
|
0.005 |
contig
reference |
C |
Thr
[T] |
2 |
217 |
|
16951392 |
1066 |
0.043 |
nonsynonymous |
A |
Tyr [Y] |
2 |
282 |
|
|
|
|
|
0.043 |
contig
reference |
G |
Cys [C] |
2 |
282 |
All SNPs within the HFE Gene (NCBI dbSNP Build
126)
|
M.Tevfik DORAK, MD PhD
Last updated on 15 August 2006
Genetics Clinical Genetics Genetic Epidemiology Population Genetics Evolution
HLA MHC Glossary
Homepage