Genome Browser


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SNP Information

dbSNP ID  rs28934597
JSNP ID  -
Chromosome  6
Chromosome Position  26199248
Strand  +
Allele  C/G
Validation Class  SNP: single nucleotide polymorphism
SNP Effect  POLYPHEN  SIFT

Gene Information

Type mRNA Accession Gene Strand mRNA_Pos Codon_Pos Protein_Pos Allele Codons AminoAcid
 CDS-nonsynonymous  NM_000410  HFE  +  437  1  93  C/G  CGG/GGG  R/G
 CDS-nonsynonymous  NM_139003  HFE  +  437  1  93  C/G  CGG/GGG  R/G
 CDS-nonsynonymous  NM_139002  HFE  +  437  1  93  C/G  CGG/GGG  R/G
 CDS-nonsynonymous  NM_139005  HFE  +  437  1  93  C/G  CGG/GGG  R/G
 CDS-nonsynonymous  NM_139006  HFE  +  437  1  93  C/G  CGG/GGG  R/G
 Intron  NM_139007  HFE  +  -  -  -  C/G    -
 Intron  NM_139008  HFE  +  -  -  -  C/G    -
 CDS-nonsynonymous  NM_139009  HFE  +  368  1  70  C/G  CGG/GGG  R/G
 CDS-nonsynonymous  NM_139004  HFE  +  437  1  93  C/G  CGG/GGG  R/G
 Intron  NM_139010  HFE  +  -  -  -  C/G    -
 Intron  NM_139011  HFE  +  -  -  -  C/G    -

Disease Information

Disease Hit  1
Disease Name  Hemochromatosis
Others  -

Disease Information

dbSNP JSNP ALFRED
  -   -   -

Flanking Sequence

dbSNP
>gnl|dbSNP|rs28934597 rs=28934597|pos=251|len=501|taxid=9606|mol=cDNA|class=1|alleles=C/G|build=125
TCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGC
GTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTT
GGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGT
GTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTT
CCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAA
S
GGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCAC
AACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAAT
GCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGC
AGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAA
CCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGC 
JSNP
>gnl|dbSNP|rs28934597 rs=28934597|pos=251|len=501|taxid=9606|mol=cDNA|class=1|alleles=C/G|build=125
TCTCCTCCTGATGCTTTTGCAGACCGCGGTCCTGCAGGGGCGCTTGCTGC
GTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTT
GGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGT
GTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTT
CCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAA
S
GGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCAC
AACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAAT
GCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGC
AGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAA
CCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGC