Product Details

SNP ID
rs144415562
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:44113859 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCTCAACTCACACAAAGTTCTGA[A/G]CAATGGCCAGCACCTTGGAATACTC
Phenotype
MIM: 611827
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
MRPL14 PubMed Links

Gene Details

Gene
MRPL14
Gene Name
mitochondrial ribosomal protein L14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318767.1 499 Missense Mutation GCT,GTT A141V NP_001305696.1
NM_001318768.1 499 Missense Mutation GCT,GTT A141V NP_001305697.1
NM_001318769.1 499 Missense Mutation GCT,GTT A152V NP_001305698.1
NM_001318770.1 499 Missense Mutation GCT,GTT A194V NP_001305699.1
NM_001318771.1 499 Missense Mutation GCT,GTT A107V NP_001305700.1
NM_032111.3 499 Missense Mutation GCT,GTT A141V NP_115487.2

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