Genome Browser
SNP Information
| dbSNP ID | rs28934595 |
|---|---|
| JSNP ID | - |
| Chromosome | 6 |
| Chromosome Position | 26199561 |
| Strand | + |
| Allele | A/C |
| 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 | + | 541 | 3 | 127 | A/C | CAA/CAC | Q/H |
| Intron | NM_139003 | HFE | + | - | - | - | A/C | - | |
| CDS-nonsynonymous | NM_139002 | HFE | + | 541 | 3 | 127 | A/C | CAA/CAC | Q/H |
| CDS-nonsynonymous | NM_139005 | HFE | + | 541 | 3 | 127 | A/C | CAA/CAC | Q/H |
| CDS-nonsynonymous | NM_139006 | HFE | + | 541 | 3 | 127 | A/C | CAA/CAC | Q/H |
| CDS-nonsynonymous | NM_139007 | HFE | + | 277 | 3 | 39 | A/C | CAA/CAC | Q/H |
| CDS-nonsynonymous | NM_139008 | HFE | + | 277 | 3 | 39 | A/C | CAA/CAC | Q/H |
| CDS-nonsynonymous | NM_139009 | HFE | + | 472 | 3 | 104 | A/C | CAA/CAC | Q/H |
| Intron | NM_139004 | HFE | + | - | - | - | A/C | - | |
| Intron | NM_139010 | HFE | + | - | - | - | A/C | - | |
| Intron | NM_139011 | HFE | + | - | - | - | A/C | - |
Disease Information
| Disease Hit | 1 |
|---|---|
| Disease Name | Variegate Porphyria |
| Others | - |
Disease Information
| dbSNP | JSNP | ALFRED |
|---|---|---|
| - | - | - |
Flanking Sequence
| dbSNP |
|---|
|
>gnl|dbSNP|rs28934595 rs=28934595|pos=251|len=501|taxid=9606|mol=cDNA|class=1|alleles=A/C|build=125 TTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTC TATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAG TAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGT GGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAAC CACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCA M GAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGA CCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCA GGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGG CAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTT GCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCCTCCTTTGGTGA |
| JSNP |
|
>gnl|dbSNP|rs28934595 rs=28934595|pos=251|len=501|taxid=9606|mol=cDNA|class=1|alleles=A/C|build=125 TTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTC TATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAG TAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGT GGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAAC CACAGCAAGGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCA M GAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGA CCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCA GGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGG CAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTT GCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGTGCCTCCTTTGGTGA |
