Product Details

SNP ID
rs146246961
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:95090451 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCATATTAATGGACCCAGAGACCT[C/T]GGCATACATGTCTTTGATGCCAATG
Phenotype
MIM: 611972
Polymorphism
C/T, 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 1060 Missense Mutation AAG,GAG K256E NP_001308924.1
NM_001321996.1 1060 Missense Mutation AAG,GAG K169E NP_001308925.1
NM_001321997.1 1060 Missense Mutation AAG,GAG K169E NP_001308926.1
NM_031902.4 1060 Missense Mutation AAG,GAG K335E NP_114108.1

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