Product Details

SNP ID
rs139121782
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:95090390 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGACCCCGGGAAAGGATTACCTGT[A/C]TGGAGAGCCCACGGAAGAGGCCCTG
Phenotype
MIM: 611972
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MRPS5 PubMed Links

Gene Details

Gene
MRPS5
Gene Name
mitochondrial ribosomal protein S5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321995.1 1121 Missense Mutation AGA,ATA R276I NP_001308924.1
NM_001321996.1 1121 Missense Mutation AGA,ATA R189I NP_001308925.1
NM_001321997.1 1121 Missense Mutation AGA,ATA R189I NP_001308926.1
NM_031902.4 1121 Missense Mutation AGA,ATA R355I NP_114108.1

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