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Search Thermo Fisher Scientific
ACTGATGGAGCCACTCGAGTCTACT[A/C]CCTGGGCATCCGGGATGTGCAGTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300167 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HEPH 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 - Not Available | CEPH (CEU) - Not Available | |||
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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HEPH - hephaestin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130860.3 | 197 | Missense Mutation | TAC,TCC | Y,S 32 | NP_001124332.1 | |
NM_001282141.1 | 197 | Missense Mutation | TAC,TCC | Y,S 32 | NP_001269070.1 | |
NM_014799.3 | 197 | Intron | NP_055614.1 | |||
NM_138737.4 | 197 | Missense Mutation | TAC,TCC | Y,S 83 | NP_620074.3 | |
XM_006724722.1 | 197 | Missense Mutation | TAC,TCC | Y,S 32 | XP_006724785.1 | |
XM_011531073.2 | 197 | Missense Mutation | TAC,TCC | Y,S 83 | XP_011529375.1 | |
XM_011531074.2 | 197 | Missense Mutation | TAC,TCC | Y,S 83 | XP_011529376.1 | |
XM_011531075.2 | 197 | Missense Mutation | TAC,TCC | Y,S 83 | XP_011529377.1 | |
XM_017029998.1 | 197 | Missense Mutation | TAC,TCC | Y,S 83 | XP_016885487.1 | |
XM_017029999.1 | 197 | Missense Mutation | TAC,TCC | Y,S 32 | XP_016885488.1 | |
XM_017030000.1 | 197 | Missense Mutation | TAC,TCC | Y,S 32 | XP_016885489.1 | |
XM_017030001.1 | 197 | Missense Mutation | TAC,TCC | Y,S 32 | XP_016885490.1 | |
XM_017030002.1 | 197 | Missense Mutation | TAC,TCC | Y,S 32 | XP_016885491.1 | |
XM_017030003.1 | 197 | Missense Mutation | TAC,TCC | Y,S 32 | XP_016885492.1 |