Product Details

SNP ID
rs149923755
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:88459860 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTAGGAACTTGGCTTCCATGTTG[G/T]TTTCTGAAGAGGGAGGAAAGAAAAA
Phenotype
MIM: 611851 MIM: 611977
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MRPL46 PubMed Links

Gene Details

Gene
MRPL46
Gene Name
mitochondrial ribosomal protein L46
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022163.3 618 Missense Mutation AAC,ACC N198T NP_071446.2
Gene
MRPS11
Gene Name
mitochondrial ribosomal protein S11
There are no transcripts associated with this gene.

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