Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604419 MIM: 609381 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
POLQ 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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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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POLQ - DNA polymerase theta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_199420.3 | 7741 | Missense Mutation | CTC,GTC | L,V 2538 | NP_955452.3 | |
XM_011512343.2 | 7741 | Missense Mutation | CTC,GTC | L,V 2493 | XP_011510645.1 | |
XM_011512347.2 | 7741 | Missense Mutation | CTC,GTC | L,V 2539 | XP_011510649.1 | |
XM_011512348.2 | 7741 | Missense Mutation | CTC,GTC | L,V 2368 | XP_011510650.1 | |
XM_011512352.2 | 7741 | Intron | XP_011510654.1 | |||
XM_011512354.2 | 7741 | Missense Mutation | CTC,GTC | L,V 1776 | XP_011510656.1 | |
XM_017005565.1 | 7741 | Missense Mutation | CTC,GTC | L,V 2149 | XP_016861054.1 |
STXBP5L - syntaxin binding protein 5 like | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |