Product Details

SNP ID

rs115052842

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18261283 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTGAAACCGGCCCTGGGGCCGTG[A/G]CGGGTCACCCGGTTGGCCTGGGATC

Phenotype

MIM: 600362 MIM: 615498 MIM: 601243

Polymorphism

A/G, Transition 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	105	Intron			NP_001138372.1
NM_139162.3	105	Intron			NP_631901.2
NM_148886.1	105	Intron			NP_683684.2
XM_017024190.1	105	UTR 5			XP_016879679.1

Gene

TOP3A

Gene Name

topoisomerase (DNA) III alpha

There are no transcripts associated with this gene.

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