Product Details

SNP ID
rs78841746
Assay Type
Functionally tested
NCBI dbSNP Submissions
17
Location
Chr.1:11989318 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTTGAGCAGCTGGGGGCCTACAT[A/C]CAGGAGAGCGCCACCTTCCTTGAAG
Phenotype
MIM: 608507
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MFN2 PubMed Links

Gene Details

Gene
MFN2
Gene Name
mitofusin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127660.1 616 Silent Mutation ATA,ATC I50I NP_001121132.1
NM_014874.3 616 Silent Mutation ATA,ATC I50I NP_055689.1
XM_005263543.3 616 Silent Mutation ATA,ATC I50I XP_005263600.1
XM_005263545.3 616 Silent Mutation ATA,ATC I50I XP_005263602.1
XM_005263547.3 616 Silent Mutation ATA,ATC I50I XP_005263604.1
XM_005263548.3 616 Silent Mutation ATA,ATC I50I XP_005263605.1

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