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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)

SNPs3D FastSNP

Ensembl (isoform 16348) Vega Ensembl Map GeneAtlas UCSC Browser

HapMap (isoform 1)

Genetic Association Database

Human Genetic Mutations Database

Reference Sequences: Genomic mRNA Protein

GeneCards GeneNote UniGene GDB iHOP

UniProt / SwissProt Structure 1 Structure 2 HomoloGene

DOE Genomics

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 position	mRNA pos	dbSNP rs# cluster id	Hetero- zygosity	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos
exon_2	16949347	325	rs2242956	N.D.	nonsynonymous	C	Thr [T]	2	35
				N.D.	contig reference	T	Met [M]	2	35
	16949430	408	rs1799945	0.139	nonsynonymous	G	Asp [D]	1	63
				0.139	contig reference	C	His [H]	1	63
	16949436	414	rs1800730	N.D.	nonsynonymous	T	Cys [C]	1	65
				N.D.	contig reference	A	Ser [S]	1	65
	16949520	498	rs28934597	N.D.	nonsynonymous	C	Arg [R]	1	93
				N.D.	contig reference	G	Gly [G]	1	93
	16949557	535	rs28934596	N.D.	nonsynonymous	C	Thr [T]	2	105
				N.D.	contig reference	T	Ile [I]	2	105
exon_3	16949833	602	rs28934595	N.D.	nonsynonymous	C	His [H]	3	127
				N.D.	contig reference	A	Gln [Q]	3	127
exon_4	16951197	871	rs4986950	0.005	nonsynonymous	T	Ile [I]	2	217
				0.005	contig reference	C	Thr [T]	2	217
	16951392	1066	rs1800562	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)

Region	Contig position	mRNA pos	dbSNP rs# cluster id	Hetero- zygosity	Function	dbSNP allele	Protein residue	Codon pos	Amino acid pos
intron_1	16946107		rs2858993	N.D.	intron	A/T
	16946540		rs807206	0.062	intron	A/T
	16946658		rs3799374	0.138	intron	A/G
	16947141		rs2794719	0.497	intron	A/C
	16947349		rs9366637	0.396	intron	C/T
	16947587		rs807207	N.D.	intron	A/C
	16948644		rs2858994	N.D.	intron	A/T
	16948703		rs13196986	N.D.	intron	C/T
	16949254		rs2227837	0.474	intron	C/T
exon_2	16949347	325	rs2242956	N.D.	nonsynonymous	C	Thr [T]	2	35
				N.D.	contig reference	T	Met [M]	2	35
	16949430	408	rs1799945	0.139	nonsynonymous	G	Asp [D]	1	63
				0.139	contig reference	C	His [H]	1	63
	16949436	414	rs1800730	N.D.	nonsynonymous	T	Cys [C]	1	65
				N.D.	contig reference	A	Ser [S]	1	65
	16949520	498	rs28934597	N.D.	nonsynonymous	C	Arg [R]	1	93
				N.D.	contig reference	G	Gly [G]	1	93
	16949557	535	rs28934596	N.D.	nonsynonymous	C	Thr [T]	2	105
				N.D.	contig reference	T	Ile [I]	2	105
intron_2	16949587		rs2071303	0.499	intron	A/G
exon_3	16949833	602	rs28934595	N.D.	nonsynonymous	C	His [H]	3	127
				N.D.	contig reference	A	Gln [Q]	3	127
intron_3	16950099		rs2227838	0.284	intron	C/T
	16950398		rs807208	N.D.	intron	A/G
	16950421		rs2032451	N.D.	intron	A/C
	16951116		rs807209	0.242	intron	C/G
exon_4	16951197	871	rs4986950	0.005	nonsynonymous	T	Ile [I]	2	217
				0.005	contig reference	C	Thr [T]	2	217
	16951392	1066	rs1800562	0.043	nonsynonymous	A	Tyr [Y]	2	282
				0.043	contig reference	G	Cys [C]	2	282
intron_4	16951487		rs1800758	0.027	intron	A/G
	16951548		rs2794717	N.D.	intron	C/T
	16951554		rs1800708	0.443	intron	C/T
intron_5	16952277		rs2858996	0.236	intron	G/T
	16952381		rs2071302	N.D.	intron	A/G
	16952618		rs1572982	0.357	intron	A/G
exon_6	16953220	1783	rs3177318	N.D.	untranslated	C/T
	16953279	1842	rs1045533	0.020	untranslated	A/G
intron_6	16953894		rs13210399	N.D.	untranslated	A/G
	16953916		rs7762959	N.D.	untranslated	C/T
	16953950		rs1132675	N.D.	untranslated	A/G
	16953987		rs11465177	N.D.	untranslated	-/A
	16953987		rs28655685	N.D.	untranslated	A/T
	16954182		rs707889	0.304	untranslated	C/T
	16954635		rs11415491	N.D.	untranslated	-/T
exon_7	16954981	2390	rs11545102	N.D.	untranslated	A/G
	16954999	2408	rs1045537	0.151	untranslated	C/G
	16955297	2706	rs12346	0.461	untranslated	A/G

M.Tevfik DORAK, MD PhD

Last updated on 15 August 2006

http://www.dorak.info

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