Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTCTCCTCCTGATGCTTTTGCAGA[C/T]CGCGGTCCTGCAGGGGCGCTTGCTG
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
HFE - hemochromatosis | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000410.3 | 210 | Missense Mutation | ACC,ATC | T,I 17 | NP_000401.1 | |
NM_001300749.1 | 210 | Missense Mutation | ACC,ATC | T,I 17 | NP_001287678.1 | |
NM_139003.2 | 210 | Missense Mutation | ACC,ATC | T,I 17 | NP_620572.1 | |
NM_139004.2 | 210 | Missense Mutation | ACC,ATC | T,I 17 | NP_620573.1 | |
NM_139006.2 | 210 | Missense Mutation | ACC,ATC | T,I 17 | NP_620575.1 | |
NM_139007.2 | 210 | Missense Mutation | ACC,ATC | T,I 17 | NP_620576.1 | |
NM_139008.2 | 210 | Missense Mutation | ACC,ATC | T,I 17 | NP_620577.1 | |
NM_139009.2 | 210 | Missense Mutation | ACC,ATC | T,I 17 | NP_620578.1 | |
NM_139010.2 | 210 | Missense Mutation | ACC,ATC | T,I 17 | NP_620579.1 | |
NM_139011.2 | 210 | Missense Mutation | ACC,ATC | T,I 17 | NP_620580.1 | |
XM_011514543.2 | 210 | Missense Mutation | ACC,ATC | T,I 17 | XP_011512845.1 |