Product Details

SNP ID
rs79648646
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:21177196 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGATTCATTGCGGACCAGCTCGAC[C/T]ATCTCAATGTCACCAAGAAATGGTC
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_024026.4 404 Missense Mutation CAT,TAT H94Y NP_076931.1
XM_017020740.1 404 Missense Mutation CAT,TAT H94Y 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_001166017.1 404 Intron NP_001159489.1
NM_145061.5 404 Intron NP_659498.4
XM_005266288.3 404 Intron XP_005266345.1
XM_011534994.1 404 Intron XP_011533296.1

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