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CTGCAGGAGCTTCGGCAAGAGCTGA[A/T]CACTCTGGCCAACCCTTTCCTGGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605821 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AHSP 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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AHSP - alpha hemoglobin stabilizing protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318221.1 | 339 | Missense Mutation | AAC,ATC | N,I 75 | NP_001305150.1 | |
NM_001318222.1 | 339 | Missense Mutation | AAC,ATC | N,I 75 | NP_001305151.1 | |
NM_016633.3 | 339 | Missense Mutation | AAC,ATC | N,I 75 | NP_057717.1 |