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HFE
Genomic Map
Back To TopAssay Details
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613609
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Literature Links: |
HFE PubMed Links | |||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | ||||||
|---|---|---|---|---|---|---|---|---|
Global
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Caucasian - Not Available | CEPH (CEU)
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EAS
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African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
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AMR
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| HFE - hemochromatosis | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000410.3 | 465 | Missense Mutation | TAC,TGC | Y,C 282 | NP_000401.1 | |
| NM_001300749.1 | 465 | Missense Mutation | TAC,TGC | Y,C 282 | NP_001287678.1 | |
| NM_139003.2 | 465 | Missense Mutation | TAC,TGC | Y,C 176 | NP_620572.1 | |
| NM_139004.2 | 465 | Missense Mutation | TAC,TGC | Y,C 190 | NP_620573.1 | |
| NM_139006.2 | 465 | Missense Mutation | TAC,TGC | Y,C 268 | NP_620575.1 | |
| NM_139007.2 | 465 | Missense Mutation | TAC,TGC | Y,C 194 | NP_620576.1 | |
| NM_139008.2 | 465 | Missense Mutation | TAC,TGC | Y,C 180 | NP_620577.1 | |
| NM_139009.2 | 465 | Missense Mutation | TAC,TGC | Y,C 259 | NP_620578.1 | |
| NM_139010.2 | 465 | Missense Mutation | TAC,TGC | Y,C 102 | NP_620579.1 | |
| NM_139011.2 | 465 | Intron | NP_620580.1 | |||
| XM_011514543.2 | 465 | Missense Mutation | TAC,TGC | Y,C 282 | XP_011512845.1 | |
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Set Membership: |
HapMap
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Panther Classification:
Gene Ontology Categories:
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