Product Details

SNP ID
rs141732320
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:21176918 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGTCCCTCTCTTCCGCAGGCACCA[C/T]GTTCCTGACTGCGCTCCTCTGGCGC
Phenotype
MIM: 611997
Polymorphism
C/T, Transition 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_024026.4 126 Missense Mutation ACG,ATG T1M NP_076931.1
XM_017020740.1 126 Missense Mutation ACG,ATG T1M 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_001166017.1 126 Intron NP_001159489.1
NM_145061.5 126 Intron NP_659498.4
XM_005266288.3 126 Intron XP_005266345.1
XM_011534994.1 126 Intron XP_011533296.1

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