Product Details

SNP ID
rs112672243
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143309468 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAATTCAAAGTCTTCTCCTGCCAT[A/G]GCGAGAGCCCAGGCGAACCTCTCCC
Phenotype
MIM: 606387
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
TOP1MT PubMed Links

Gene Details

Gene
TOP1MT
Gene Name
topoisomerase (DNA) I, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258446.1 1809 Silent Mutation GCC,GCT A495A NP_001245375.1
NM_001258447.1 1809 Silent Mutation GCC,GCT A495A NP_001245376.1
NM_052963.2 1809 Silent Mutation GCC,GCT A593A NP_443195.1
XM_005250781.3 1809 Intron XP_005250838.1
Gene
ZNF696
Gene Name
zinc finger protein 696
There are no transcripts associated with this gene.

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