Product Details

SNP ID
rs113197610
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10252575 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCTCCCGGAGCCCGTGCTGCGCA[A/C]AGTCGAGCTCCCGGTACCCACTCAT
Phenotype
MIM: 611823
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MRPL4 PubMed Links

Gene Details

Gene
MRPL4
Gene Name
mitochondrial ribosomal protein L4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015956.2 303 Missense Mutation AAA,ACA K50T NP_057040.2
NM_146387.1 303 Missense Mutation AAA,ACA K50T NP_666499.1
NM_146388.1 303 Missense Mutation AAA,ACA K50T NP_666500.1
XM_011528045.2 303 Missense Mutation AAA,ACA K50T XP_011526347.1

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