Product Details

SNP ID
rs113463350
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:21177389 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATATCGAATATCTAGAGCTCTAA[A/C]CCCCCAATACTTAAAAGTCTAATTG
Phenotype
MIM: 611997
Polymorphism
A/C, 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_024026.4 597 UTR 3 NP_076931.1
XM_017020740.1 597 UTR 3 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_001166017.1 597 Intron NP_001159489.1
NM_145061.5 597 Intron NP_659498.4
XM_005266288.3 597 Intron XP_005266345.1
XM_011534994.1 597 Intron XP_011533296.1

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