Product Details

SNP ID
rs200328561
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10252700 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCGATGTTTTCGCCACCGCGCCC[A/G]GGTGAGCGAGGGCTGTAATGGTGAA
Phenotype
MIM: 611823
Polymorphism
A/G, Transition 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_015956.2 428 Missense Mutation AGG,GGG R92G NP_057040.2
NM_146387.1 428 Missense Mutation AGG,GGG R92G NP_666499.1
NM_146388.1 428 Missense Mutation AGG,GGG R92G NP_666500.1
XM_011528045.2 428 Missense Mutation AGG,GGG R92G XP_011526347.1

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