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CCAGGGTTCTCCCACCTCCCTACCT[C/T]CTCTTCTCAGCTGGCCCCGGATCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
POLR1E 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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POLR1E - RNA polymerase I subunit E | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282766.1 | 261 | Intron | NP_001269695.1 | |||
NM_022490.2 | 261 | Intron | NP_071935.1 | |||
XM_005251547.2 | 261 | Missense Mutation | TCC,TTC | S,F 30 | XP_005251604.1 |