Product Details

SNP ID
rs11552948
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:75646889 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAAGCCGCCAGGACTCTGCTCCCC[C/G]CGCCGGCCTCTATCGCCTGCAGTAA
Phenotype
MIM: 611832
Polymorphism
C/G, Transversion 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_014763.3 107 Missense Mutation CCG,GCG P28A NP_055578.2

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