Product Details

SNP ID
rs146280426
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:21177221 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCTCAATGTCACCAAGAAATGGT[C/G]CTAATCCTGAGTCGTCACCCTTGGA
Phenotype
MIM: 611997
Polymorphism
C/G, 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_024026.4 429 Missense Mutation TCC,TGC S102C NP_076931.1
XM_017020740.1 429 Missense Mutation TCC,TGC S102C 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_001166017.1 429 Intron NP_001159489.1
NM_145061.5 429 Intron NP_659498.4
XM_005266288.3 429 Intron XP_005266345.1
XM_011534994.1 429 Intron XP_011533296.1

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