Search Thermo Fisher Scientific
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AAGGATAGAATCTCACAAACCTGCA[C/T]GAGATAATCAGCAATGTATTCTGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607760 | ||||||||||||||||||||
Literature Links: |
TOPBP1 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 |
TOPBP1 - topoisomerase (DNA) II binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_007027.3 | 4076 | Missense Mutation | ATG,GTG | M,V 1474 | NP_008958.2 | |
XM_005247076.3 | 4076 | Missense Mutation | ATG,GTG | M,V 1469 | XP_005247133.1 | |
XM_011512357.2 | 4076 | Intron | XP_011510659.1 | |||
XM_017005636.1 | 4076 | Missense Mutation | ATG,GTG | M,V 1474 | XP_016861125.1 | |
XM_017005637.1 | 4076 | Missense Mutation | ATG,GTG | M,V 1039 | XP_016861126.1 |