Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GACAGTTTTACAGCACTTTCCATTT[C/T]ATTCTTGACAATCTGAGCTACCTAA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
POLQ - DNA polymerase theta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_199420.3 | 7810 | Missense Mutation | AAA,GAA | K,E 2561 | NP_955452.3 | |
XM_011512343.2 | 7810 | Missense Mutation | AAA,GAA | K,E 2516 | XP_011510645.1 | |
XM_011512347.2 | 7810 | Missense Mutation | AAA,GAA | K,E 2562 | XP_011510649.1 | |
XM_011512348.2 | 7810 | Missense Mutation | AAA,GAA | K,E 2391 | XP_011510650.1 | |
XM_011512352.2 | 7810 | Intron | XP_011510654.1 | |||
XM_011512354.2 | 7810 | Missense Mutation | AAA,GAA | K,E 1799 | XP_011510656.1 | |
XM_017005565.1 | 7810 | Missense Mutation | AAA,GAA | K,E 2172 | XP_016861054.1 |
STXBP5L - syntaxin binding protein 5 like | ||||||
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There are no transcripts associated with this gene. |