Product Details

SNP ID
rs138990905
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10252634 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGCAGGCCTGGGTCGAGTCCTTG[C/T]GGGGCTTCGAGCAGGAGCGCGTGGG
Phenotype
MIM: 611823
Polymorphism
C/T, 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_015956.2 362 Missense Mutation CGG,TGG R70W NP_057040.2
NM_146387.1 362 Missense Mutation CGG,TGG R70W NP_666499.1
NM_146388.1 362 Missense Mutation CGG,TGG R70W NP_666500.1
XM_011528045.2 362 Missense Mutation CGG,TGG R70W XP_011526347.1

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