Product Details

SNP ID
rs189335343
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:95087449 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCAGTCCAGTTTGACGTCTGGAA[C/T]CTCATCTTCTGGCTCTGGATCCTTC
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 1258 Missense Mutation ATT,GTT I322V NP_001308924.1
NM_001321996.1 1258 Missense Mutation ATT,GTT I235V NP_001308925.1
NM_001321997.1 1258 Missense Mutation ATT,GTT I235V NP_001308926.1
NM_031902.4 1258 Missense Mutation ATT,GTT I401V NP_114108.1

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