Product Details

SNP ID
rs140412370
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143309494 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGAGAGCCCAGGCGAACCTCTCCC[A/G]CTGTGTTTTGCTGTAGATCTTCTCC
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 1783 Missense Mutation CGG,TGG R487W NP_001245375.1
NM_001258447.1 1783 Missense Mutation CGG,TGG R487W NP_001245376.1
NM_052963.2 1783 Missense Mutation CGG,TGG R585W NP_443195.1
XM_005250781.3 1783 Intron XP_005250838.1
Gene
ZNF696
Gene Name
zinc finger protein 696
There are no transcripts associated with this gene.

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