Product Details

SNP ID
rs149211554
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:66438168 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATCAGAGTCCAGACTCCACCTTC[A/G]CTAAAATCTTGGTAGGCAGAGGAAT
Phenotype
MIM: 611826
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MRPL11 PubMed Links

Gene Details

Gene
MRPL11
Gene Name
mitochondrial ribosomal protein L11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016050.4 309 Missense Mutation GCG,GTG A72V NP_057134.1
NM_170738.3 309 Missense Mutation GCG,GTG A46V NP_733934.1
NM_170739.3 309 Missense Mutation GCG,GTG A72V NP_733935.1
XM_017018135.1 309 Missense Mutation GCG,GTG A46V XP_016873624.1

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