Product Details

SNP ID

rs147154528

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:143309493 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGAGAGCCCAGGCGAACCTCTCC[C/T]GCTGTGTTTTGCTGTAGATCTTCTC

Phenotype

MIM: 606387

Polymorphism

C/T, 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	1784	Missense Mutation	CAG,CGG	Q487R	NP_001245375.1
NM_001258447.1	1784	Missense Mutation	CAG,CGG	Q487R	NP_001245376.1
NM_052963.2	1784	Missense Mutation	CAG,CGG	Q585R	NP_443195.1
XM_005250781.3	1784	Intron			XP_005250838.1

Gene

ZNF696

Gene Name

zinc finger protein 696

There are no transcripts associated with this gene.

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