Product Details

SNP ID
rs143962307
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:12022233 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCAGATGCCTGTCGAGGGGACCTC[C/T]GTGATGTGGCCAGATCGGGGGTGGC
Phenotype
MIM: 608507 MIM: 608772
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MFN2 PubMed Links

Gene Details

Gene
MFN2
Gene Name
mitofusin 2
There are no transcripts associated with this gene.

Gene
MIIP
Gene Name
migration and invasion inhibitory protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021933.3 370 Missense Mutation CGT,TGT R85C NP_068752.2
XM_005263487.3 370 Missense Mutation CGT,TGT R85C XP_005263544.1
XM_011541895.1 370 Missense Mutation CGT,TGT R85C XP_011540197.1
XM_011541896.1 370 Missense Mutation CGT,TGT R85C XP_011540198.1
Gene
MIR6729
Gene Name
microRNA 6729
There are no transcripts associated with this gene.

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