Product Details

SNP ID
rs34496172
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:75020394 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGTGCGGCAGAAGATAGCCATCA[C/T]GGTAACCACCATCCCTTTCTTTCCC
Phenotype
MIM: 603000
Polymorphism
C/T, 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_001303265.1 381 Missense Mutation ACG,ATG T122M NP_001290194.1
NM_001545.2 381 Missense Mutation ACG,ATG T122M NP_001536.1
XM_017024574.1 381 Missense Mutation ACG,ATG T62M XP_016880063.1

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