Product Details

SNP ID
rs138709144
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:21177090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCATGCCCTACATGACCCGGGAGCA[G/T]GAGCGCGGCCACGCCGCGGTGCGCA
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_024026.4 298 Missense Mutation CAG,CAT Q58H NP_076931.1
XM_017020740.1 298 Missense Mutation CAG,CAT Q58H 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_001166017.1 298 Intron NP_001159489.1
NM_145061.5 298 Intron NP_659498.4
XM_005266288.3 298 Intron XP_005266345.1
XM_011534994.1 298 Intron XP_011533296.1

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