Product Details

SNP ID

rs142787699

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:179351929 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATAAGAATCCGGAACTTGATCGA[A/C]TAGCCACTGAAGATGATCTGGTAGA

Phenotype

MIM: 608506

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MFN1 PubMed Links

Gene Details

Gene

MFN1

Gene Name

mitofusin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033540.2	268	Missense Mutation	ATA,CTA	I48L	NP_284941.2
XM_005247596.3	268	Missense Mutation	ATA,CTA	I48L	XP_005247653.2
XM_011512963.2	268	Intron			XP_011511265.1

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