Product Details

SNP ID
rs199675137
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:68892925 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGAAGTTTTTCCTTTTCCTGAAT[C/T]TCATAATGATTCTTGGCCATGATTC
Phenotype
MIM: 611834
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MRPL21 PubMed Links

Gene Details

Gene
MRPL21
Gene Name
mitochondrial ribosomal protein L21
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181514.1 556 Missense Mutation AAA,AGA K173R NP_852615.1
NM_181515.1 556 Missense Mutation AAA,AGA K88R NP_852616.1
XM_005273823.4 556 Missense Mutation AAA,AGA K173R XP_005273880.1

View Full Product Details