Product Details

SNP ID
rs201262632
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:66437219 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATCCTGAGCTTTGATGCGGGCAA[A/T]CTCATACACATGCTTCAAGGTCACC
Phenotype
MIM: 611826
Polymorphism
A/T, Transversion 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_016050.4 452 Missense Mutation ATT,TTT I120F NP_057134.1
NM_170738.3 452 Missense Mutation ATT,TTT I94F NP_733934.1
NM_170739.3 452 Missense Mutation ATT,TTT I120F NP_733935.1
XM_017018135.1 452 Missense Mutation ATT,TTT I94F XP_016873624.1

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