Genome Browser
SNP Information
| dbSNP ID | rs28934596 |
|---|---|
| JSNP ID | - |
| Chromosome | 6 |
| Chromosome Position | 26199285 |
| Strand | + |
| Allele | C/T |
| 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 | + | 474 | 2 | 105 | C/T | ACT/ATT | T/I |
| CDS-nonsynonymous | NM_139003 | HFE | + | 474 | 2 | 105 | C/T | ACT/ATT | T/I |
| CDS-nonsynonymous | NM_139002 | HFE | + | 474 | 2 | 105 | C/T | ACT/ATT | T/I |
| CDS-nonsynonymous | NM_139005 | HFE | + | 474 | 2 | 105 | C/T | ACT/ATT | T/I |
| CDS-nonsynonymous | NM_139006 | HFE | + | 474 | 2 | 105 | C/T | ACT/ATT | T/I |
| Intron | NM_139007 | HFE | + | - | - | - | C/T | - | |
| Intron | NM_139008 | HFE | + | - | - | - | C/T | - | |
| CDS-nonsynonymous | NM_139009 | HFE | + | 405 | 2 | 82 | C/T | ACT/ATT | T/I |
| CDS-nonsynonymous | NM_139004 | HFE | + | 474 | 2 | 105 | C/T | ACT/ATT | T/I |
| Intron | NM_139010 | HFE | + | - | - | - | C/T | - | |
| Intron | NM_139011 | HFE | + | - | - | - | C/T | - |
Disease Information
| Disease Hit | 1 |
|---|---|
| Disease Name | Hemochromatosis |
| Others | - |
Disease Information
| dbSNP | JSNP | ALFRED |
|---|---|---|
| - | - | - |
Flanking Sequence
| dbSNP |
|---|
|
>gnl|dbSNP|rs28934596 rs=28934596|pos=251|len=501|taxid=9606|mol=cDNA|class=1|alleles=C/T|build=125 GGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTC AGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATG ACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGA ACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAG TCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTA Y TATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCC TGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTAC GGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTG GAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGC ACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCT |
| JSNP |
|
>gnl|dbSNP|rs28934596 rs=28934596|pos=251|len=501|taxid=9606|mol=cDNA|class=1|alleles=C/T|build=125 GGGCGCTTGCTGCGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTC AGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATG ACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGA ACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAG TCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTA Y TATGGAAAATCACAACCACAGCAAGGAGTCCCACACCCTGCAGGTCATCC TGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTAC GGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTG GAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGC ACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCT |
