Product Details

SNP ID
rs143032757
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:38931307 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGGTGGCAGGATGTCCTGGTCT[A/G]GCCTTCTCCATGGCCTCAACACGTC
Phenotype
MIM: 603021 MIM: 612804
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MRPS12 PubMed Links

Gene Details

Gene
MRPS12
Gene Name
mitochondrial ribosomal protein S12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021107.1 323 Missense Mutation AGC,GGC S5G NP_066930.1
NM_033362.3 323 Missense Mutation AGC,GGC S5G NP_203526.1
NM_033363.1 323 Missense Mutation AGC,GGC S5G NP_203527.1
Gene
SARS2
Gene Name
seryl-tRNA synthetase 2, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145901.1 323 Intron NP_001139373.1
NM_017827.3 323 Intron NP_060297.1

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