Product Details

SNP ID
rs149328835
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:133608540 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGATAGAATCTCACAAACCTGCA[C/T]GAGATAATCAGCAATGTATTCTGTT
Phenotype
MIM: 607760
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TOPBP1 PubMed Links

Gene Details

Gene
TOPBP1
Gene Name
topoisomerase (DNA) II binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007027.3 4076 Missense Mutation ATG,GTG M1474V NP_008958.2
XM_005247076.3 4076 Missense Mutation ATG,GTG M1469V XP_005247133.1
XM_011512357.2 4076 Intron XP_011510659.1
XM_017005636.1 4076 Missense Mutation ATG,GTG M1474V XP_016861125.1
XM_017005637.1 4076 Missense Mutation ATG,GTG M1039V XP_016861126.1

View Full Product Details