Product Details

SNP ID
rs200355148
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:75646844 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTGCAGCGGGGCACTGGGCTGCA[A/G]TGGGCCTAGGCCGGAGTTTCCAAGC
Phenotype
MIM: 611832
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MRPL19 PubMed Links

Gene Details

Gene
MRPL19
Gene Name
mitochondrial ribosomal protein L19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014763.3 62 Missense Mutation ATG,GTG M13V NP_055578.2

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