Product Details

SNP ID
rs143729133
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10252458 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCGAGAACCCGGAGCAGGTGGCGA[A/G]CGAGGGTAAGGCAACCGGGGTGGCT
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_015956.2 273 Missense Mutation AAC,AGC N40S NP_057040.2
NM_146387.1 273 Missense Mutation AAC,AGC N40S NP_666499.1
NM_146388.1 273 Missense Mutation AAC,AGC N40S NP_666500.1
XM_011528045.2 273 Missense Mutation AAC,AGC N40S XP_011526347.1

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