Product Details

SNP ID
rs150285849
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:21177016 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCGTGTCGTTGCGCGCCAAGCAG[A/G]ACATGATCCGCCGCCTGGAGATCGA
Phenotype
MIM: 611997
Polymorphism
A/G, 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_024026.4 224 Missense Mutation AAC,GAC N34D NP_076931.1
XM_017020740.1 224 Missense Mutation AAC,GAC N34D 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_001166017.1 224 Intron NP_001159489.1
NM_145061.5 224 Intron NP_659498.4
XM_005266288.3 224 Intron XP_005266345.1
XM_011534994.1 224 Intron XP_011533296.1

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