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TAAAAGAATGGATTTCTGATGTCAG[C/T]GAGAGTAAGGTAAGACTCTAAACTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616865 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PAPOLG 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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PAPOLG - poly(A) polymerase gamma | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022894.3 | 460 | Silent Mutation | AGC,AGT | S,S 79 | NP_075045.2 | |
XM_005264500.3 | 460 | Silent Mutation | AGC,AGT | S,S 79 | XP_005264557.1 | |
XM_005264501.1 | 460 | Silent Mutation | AGC,AGT | S,S 35 | XP_005264558.1 | |
XM_011533041.1 | 460 | UTR 5 | XP_011531343.1 | |||
XM_017004723.1 | 460 | UTR 5 | XP_016860212.1 | |||
XM_017004724.1 | 460 | UTR 5 | XP_016860213.1 |