Product Details

SNP ID
rs199816029
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40392636 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGGAGGGACATCAAAATTACTTT[C/T]GTCACTGCTCCTATCTGATTCTGAA
Phenotype
MIM: 126430
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TOP2A PubMed Links

Gene Details

Gene
TOP2A
Gene Name
topoisomerase (DNA) II alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001067.3 4014 Missense Mutation AAA,GAA K1305E NP_001058.2
XM_005257632.1 4014 Missense Mutation AAA,GAA K1293E XP_005257689.1
XM_011525165.1 4014 Missense Mutation AAA,GAA K1305E XP_011523467.1

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