Product Details

SNP ID

rs113085827

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18274964 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTCCTCTGTCTCCTGTCCAGGA[C/T]GGGGCTCCAGAAGTCCCTGTCGGGA

Phenotype

MIM: 615498 MIM: 601243

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MIEF2 PubMed Links

Gene Details

Gene

MIEF2

Gene Name

mitochondrial elongation factor 2

There are no transcripts associated with this gene.

Gene

TOP3A

Gene Name

topoisomerase (DNA) III alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320759.1	3158	Silent Mutation	CCA,CCG	P853P	NP_001307688.1
NM_004618.4	3158	Silent Mutation	CCA,CCG	P948P	NP_004609.1
XM_011524001.2	3158	Silent Mutation	CCA,CCG	P478P	XP_011522303.1

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