Product Details

SNP ID
rs201624121
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:95100502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGTTGTTTCTTCATCTTGATATG[C/T]GTCCTTTTAAATCTTAATGAAATAT
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_001321995.1 960 Silent Mutation ACA,ACG T222T NP_001308924.1
NM_001321996.1 960 Silent Mutation ACA,ACG T135T NP_001308925.1
NM_001321997.1 960 Silent Mutation ACA,ACG T135T NP_001308926.1
NM_031902.4 960 Silent Mutation ACA,ACG T301T NP_114108.1

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