Product Details

SNP ID
rs202195745
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:122270937 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCCGCATGGTCCACCCTACCTTT[C/T]GCAATTATCTTGCAGCCTCTATCAG
Phenotype
MIM: 604602
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MRRF PubMed Links

Gene Details

Gene
MRRF
Gene Name
mitochondrial ribosome recycling factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173512.1 410 Missense Mutation CGC,TGC R16C NP_001166983.1
NM_138777.3 410 Missense Mutation CGC,TGC R16C NP_620132.1
NM_199177.2 410 Intron NP_954646.1
XM_005252302.3 410 Missense Mutation CGC,TGC R37C XP_005252359.1
XM_011519183.2 410 Missense Mutation CGC,TGC R37C XP_011517485.1
XM_011519184.2 410 Missense Mutation CGC,TGC R16C XP_011517486.1
XM_011519185.2 410 Missense Mutation CGC,TGC R37C XP_011517487.1
XM_011519186.1 410 Missense Mutation CGC,TGC R16C XP_011517488.1
XM_011519187.2 410 Intron XP_011517489.1
XM_017015286.1 410 Missense Mutation CGC,TGC R37C XP_016870775.1
XM_017015287.1 410 Missense Mutation CGC,TGC R16C XP_016870776.1
Gene
RBM18
Gene Name
RNA binding motif protein 18
There are no transcripts associated with this gene.

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