Product Details

SNP ID
rs149953316
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143310174 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTGCACACTCAGCTGCGCCAGCT[A/G]CTCCTGCAGCTTCTCCAGGAGCCGC
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 1627 Nonsense Mutation CAG,TAG Q435* NP_001245375.1
NM_001258447.1 1627 Nonsense Mutation CAG,TAG Q435* NP_001245376.1
NM_052963.2 1627 Nonsense Mutation CAG,TAG Q533* NP_443195.1
XM_005250781.3 1627 Nonsense Mutation CAG,TAG Q533* XP_005250838.1

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