Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCGCGGCGGGCGCTCGCCCAGTAC[C/T]TGCTCTTCCTGCGGCTCTACCCGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 174762 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
POLE 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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POLE - DNA polymerase epsilon, catalytic subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006231.3 | 141 | Intron | NP_006222.2 | |||
XM_011534795.2 | 141 | Intron | XP_011533097.1 | |||
XM_011534797.2 | 141 | Intron | XP_011533099.1 | |||
XM_011534798.1 | 141 | Intron | XP_011533100.1 | |||
XM_011534799.2 | 141 | Intron | XP_011533101.1 | |||
XM_011534800.2 | 141 | Intron | XP_011533102.1 | |||
XM_011534802.2 | 141 | Intron | XP_011533104.1 |
PXMP2 - peroxisomal membrane protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018663.2 | 141 | Silent Mutation | CTG,TTG | L,L 26 | NP_061133.1 |