Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613609 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
HFE PubMed Links | |||||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||||||||
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Global
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Caucasian
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CEPH (CEU)
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EAS
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African American
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YRI (Yoruba) - Not Available | |||||||||
SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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HFE - hemochromatosis | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000410.3 | 347 | Missense Mutation | CAT,GAT | H,D 63 | NP_000401.1 | |
NM_001300749.1 | 347 | Missense Mutation | CAT,GAT | H,D 63 | NP_001287678.1 | |
NM_139003.2 | 347 | Missense Mutation | CAT,GAT | H,D 63 | NP_620572.1 | |
NM_139004.2 | 347 | Missense Mutation | CAT,GAT | H,D 63 | NP_620573.1 | |
NM_139006.2 | 347 | Missense Mutation | CAT,GAT | H,D 63 | NP_620575.1 | |
NM_139007.2 | 347 | Intron | NP_620576.1 | |||
NM_139008.2 | 347 | Intron | NP_620577.1 | |||
NM_139009.2 | 347 | Missense Mutation | CAT,GAT | H,D 40 | NP_620578.1 | |
NM_139010.2 | 347 | Intron | NP_620579.1 | |||
NM_139011.2 | 347 | Intron | NP_620580.1 | |||
XM_011514543.2 | 347 | Missense Mutation | CAT,GAT | H,D 63 | XP_011512845.1 |
Set Membership: |
HapMap Validated |