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Gene ID: HFE
Navigation:Non-Synonymous SNPsIntronic SNPsUntranslated mRNA SNPsGene Variants
Display: All SwissProt Only dbSNP Only
Gene InfoAnnotation Info
Description:hemochromatosis protein precursorSwiss-Prot Source:
Chromosome:6NCBI mRNA Source:NM_000410
Gene length: 7961NCBI Protein Source:
Exons: 6Gene Symbol: HFE
Number of Transcript Variants 10
Visualize Pathways Using web services (slow)Visualize Pathways Using local data (fast)
Mutation ListBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed SIFT Score
(help?)
DBSNP:rs224295634M        TNCBIIn dbsnp.5 1.00
SWISS:VAR_00811153V        MSwiss-Prot510401000 0.00
SWISS:VAR_00811259V        MSwiss-Prot510401000 0.00
DBSNP:rs179994562H        DNCBIIn dbsnp.5 0.03
DBSNP:rs180073064S        CNCBIIn dbsnp.5 0.00
DBSNP:rs2893459792G        RNCBIIn dbsnp.None Not scored
SWISS:VAR_00872993G        RSwiss-Protin HH510575540 0.23
DBSNP:rs28934596104I        TNCBIIn dbsnp.None Not scored
SWISS:VAR_008730105I        TSwiss-Protin HH510575540 0.00
DBSNP:rs28934595126Q        HNCBIIn dbsnp.None Not scored
SWISS:VAR_008113127Q        HSwiss-Protin HH and VP510401000 0.16
DBSNP:rs4986950216T        INCBIIn dbsnp.5 0.12
SWISS:VAR_008731277E        KSwiss-Protrare polymorphism510612845 0.02
DBSNP:rs1800562281C        YNCBIIn dbsnp.5 0.00
SWISS:VAR_008114330R        MSwiss-Protin HHNone10401000 0.08
Intronic SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs285899326195834 A       TNCBIIn dbsnp forward  
DBSNP:rs80720626196267 A       TNCBIIn dbsnp reverse  
DBSNP:rs379937426196385 A       GNCBIIn dbsnp forward  
DBSNP:rs279471926196868 A       CNCBIIn dbsnp reverse  
DBSNP:rs936663726197076 C       TNCBIIn dbsnp forward  
DBSNP:rs80720726197314 A       CNCBIIn dbsnp reverse  
DBSNP:rs285899426198371 A       TNCBIIn dbsnp forward  
DBSNP:rs1319698626198430 C       TNCBIIn dbsnp forward  
DBSNP:rs222783726198981 C       TNCBIIn dbsnp forward  
DBSNP:rs207130326199314 A       GNCBIIn dbsnp reverse  
DBSNP:rs222783826199826 C       TNCBIIn dbsnp forward  
DBSNP:rs80720826200125 A       GNCBIIn dbsnp reverse  
DBSNP:rs203245126200148 A       CNCBIIn dbsnp reverse  
DBSNP:rs80720926200843 C       GNCBIIn dbsnp reverse  
DBSNP:rs180075826201214 A       GNCBIIn dbsnp forward  
DBSNP:rs279471726201275 C       TNCBIIn dbsnp reverse  
DBSNP:rs180070826201281 C       TNCBIIn dbsnp forward  
DBSNP:rs285899626202004 G       TNCBIIn dbsnp forward  
DBSNP:rs207130226202108 A       GNCBIIn dbsnp reverse  
DBSNP:rs157298226202345 A       GNCBIIn dbsnp forward  
Untranslated mRNA SNPsBack to top
Source ID Nucleotide
Position		 WT -> MT Sequence Phenotype Strand PubMed  
DBSNP:rs317731826202947 C       TNCBIIn dbsnp forward  
DBSNP:rs104553326203006 A       GNCBIIn dbsnp forward  
Transcript VariantsBack to top
MutDB Link Refseq mRNA NCBI Protein Description
NM_139002NM_139002NP_620571hemochromatosis protein isoform 2 precursor
NM_139003NM_139003NP_620572hemochromatosis protein isoform 3 precursor
NM_139004NM_139004NP_620573hemochromatosis protein isoform 4 precursor
NM_139005NM_139005NP_620574hemochromatosis protein isoform 5 precursor
NM_139006NM_139006NP_620575hemochromatosis protein isoform 6 precursor
NM_139007NM_139007NP_620576hemochromatosis protein isoform 7 precursor
NM_139008NM_139008NP_620577hemochromatosis protein isoform 8 precursor
NM_139009NM_139009NP_620578hemochromatosis protein isoform 9 precursor
NM_139010NM_139010NP_620579hemochromatosis protein isoform 10 precursor
NM_139011NM_139011NP_620580hemochromatosis protein isoform 11 precursor
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