Product Details

SNP ID
rs200638129
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:12022150 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGAGACTCCATCGACCCCAGAGA[C/T]GTCCTCAACTTCCTTGAGCACCTCC
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_021933.3 287 Missense Mutation ACG,ATG T57M NP_068752.2
XM_005263487.3 287 Missense Mutation ACG,ATG T57M XP_005263544.1
XM_011541895.1 287 Missense Mutation ACG,ATG T57M XP_011540197.1
XM_011541896.1 287 Missense Mutation ACG,ATG T57M XP_011540198.1
Gene
MIR6729
Gene Name
microRNA 6729
There are no transcripts associated with this gene.

View Full Product Details