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GGCGCCAAGAAGCCCTAGAAAGACT[A/G]AAAAAGGCTAAAGCTGGTGAGAAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 312040 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
POLA1 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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POLA1 - DNA polymerase alpha 1, catalytic subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016937.3 | 129 | Silent Mutation | CTA,CTG | L,L 38 | NP_058633.2 | |
XM_005274552.3 | 129 | Silent Mutation | CTA,CTG | L,L 44 | XP_005274609.1 | |
XM_006724499.2 | 129 | UTR 5 | XP_006724562.1 | |||
XM_011545540.2 | 129 | Silent Mutation | CTA,CTG | L,L 44 | XP_011543842.1 | |
XM_011545541.2 | 129 | Silent Mutation | CTA,CTG | L,L 44 | XP_011543843.1 | |
XM_017029594.1 | 129 | Silent Mutation | CTA,CTG | L,L 44 | XP_016885083.1 | |
XM_017029595.1 | 129 | Silent Mutation | CTA,CTG | L,L 44 | XP_016885084.1 | |
XM_017029596.1 | 129 | Silent Mutation | CTA,CTG | L,L 44 | XP_016885085.1 |