Product Details

SNP ID
rs182569165
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:158646865 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGACTGTCAATCGTCAGATGAAG[C/T]GCTACAACGTTCCGTTTCTAACTTT
Phenotype
MIM: 606639
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GFM1 PubMed Links

Gene Details

Gene
GFM1
Gene Name
G elongation factor mitochondrial 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308164.1 628 Missense Mutation CGC,TGC R164C NP_001295093.1
NM_001308166.1 628 Missense Mutation CGC,TGC R164C NP_001295095.1
NM_024996.5 628 Missense Mutation CGC,TGC R164C NP_079272.4
XM_006713795.1 628 Missense Mutation CGC,TGC R164C XP_006713858.1

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