Product Details

SNP ID
rs138758410
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:129042340 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCTACGGTTGACGCCAGGCCTG[C/T]GGAAAGTCCTCTTTGCCACGGCCCT
Phenotype
MIM: 616774
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MIGA2 PubMed Links

Gene Details

Gene
MIGA2
Gene Name
mitoguardin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005252282.1 338 Missense Mutation CGG,TGG R45W XP_005252339.1
XM_011519117.1 338 Missense Mutation CGG,TGG R109W XP_011517419.1
XM_011519118.1 338 UTR 5 XP_011517420.1

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