Product Details

SNP ID
rs140093791
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:21177000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCACCGGCGGCCGCGGTTCGTGTC[G/T]TTGCGCGCCAAGCAGAACATGATCC
Phenotype
MIM: 611997
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MRPL57 PubMed Links

Gene Details

Gene
MRPL57
Gene Name
mitochondrial ribosomal protein L57
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024026.4 208 Silent Mutation TCG,TCT S28S NP_076931.1
XM_017020740.1 208 Silent Mutation TCG,TCT S28S XP_016876229.1
Gene
SKA3
Gene Name
spindle and kinetochore associated complex subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166017.1 208 Intron NP_001159489.1
NM_145061.5 208 Intron NP_659498.4
XM_005266288.3 208 Intron XP_005266345.1
XM_011534994.1 208 Intron XP_011533296.1

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