Product Details

SNP ID

rs147166213

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18262822 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAATGCCCGCCTGGTGCTGGGCGT[G/T]GGCGGGGCTGCTGTGCTGGGCATTG

Phenotype

MIM: 600362 MIM: 615498 MIM: 601243

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

FLII PubMed Links

Gene Details

Gene

FLII

Gene Name

FLII, actin remodeling protein

There are no transcripts associated with this gene.

Gene

MIEF2

Gene Name

mitochondrial elongation factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144900.1	313	Silent Mutation	GTG,GTT	V34V	NP_001138372.1
NM_139162.3	313	Silent Mutation	GTG,GTT	V34V	NP_631901.2
NM_148886.1	313	Silent Mutation	GTG,GTT	V45V	NP_683684.2
XM_017024190.1	313	Silent Mutation	GTG,GTT	V41V	XP_016879679.1

Gene

TOP3A

Gene Name

topoisomerase (DNA) III alpha

There are no transcripts associated with this gene.

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