Product Details

SNP ID
rs201200107
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:72220988 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCTGTTGCTGTTCTCTCTGGATC[A/C]ACTGTACAAGGTCTAGATGCCACTG
Phenotype
MIM: 611989
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MRPS27 PubMed Links

Gene Details

Gene
MRPS27
Gene Name
mitochondrial ribosomal protein S27
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286748.1 1170 Missense Mutation TGG,TTG W403L NP_001273677.1
NM_001286751.1 1170 Missense Mutation TGG,TTG W333L NP_001273680.1
NM_015084.2 1170 Missense Mutation TGG,TTG W389L NP_055899.2

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