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TGCTGCCTATGAATGATCAGATACG[A/G]GAGCTACAGACCATCATCCGTGACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300656 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UPRT 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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UPRT - uracil phosphoribosyltransferase homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001307944.1 | 556 | Silent Mutation | CGA,CGG | R,R 120 | NP_001294873.1 | |
NM_145052.3 | 556 | Silent Mutation | CGA,CGG | R,R 120 | NP_659489.1 | |
XM_011530867.2 | 556 | Silent Mutation | CGA,CGG | R,R 120 | XP_011529169.1 |