Product Details

SNP ID
rs146470111
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:95090511 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGTGATGATGGCCCTGTGGCAGC[A/G]GAGGCCGTAACCTAGAAAAGGAGAA
Phenotype
MIM: 611972
Polymorphism
A/G, Transition 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 1000 Missense Mutation CGC,TGC R236C NP_001308924.1
NM_001321996.1 1000 Missense Mutation CGC,TGC R149C NP_001308925.1
NM_001321997.1 1000 Missense Mutation CGC,TGC R149C NP_001308926.1
NM_031902.4 1000 Missense Mutation CGC,TGC R315C NP_114108.1

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