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TCTTGCACCGACCCCCCGAAGAACC[C/T]CCCCAGGTAGTAGAAATCGCCCTCG
Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
22 submissions
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Phenotype: |
MIM: 110300 | |||||||||||||||||||||||||||||
Literature Links: |
ABO 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 | |||
AFR
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
SAS - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
ABO - ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020469.2 | 827 | Missense Mutation | AGG,GGG | R,G 268 | NP_065202.2 |