Product Details

SNP ID
rs147649597
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75019732 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAATATCTTATTGTCGGAGTAGT[A/G]GTCCTGGGGGGCAGAATGTGAACAA
Phenotype
MIM: 603000
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MRPL58 PubMed Links

Gene Details

Gene
MRPL58
Gene Name
mitochondrial ribosomal protein L58
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303265.1 272 Missense Mutation AGT,GGT S86G NP_001290194.1
NM_001545.2 272 Missense Mutation AGT,GGT S86G NP_001536.1
XM_017024574.1 272 Missense Mutation AGT,GGT S26G XP_016880063.1

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