Product Details

SNP ID
rs200957374
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:95090474 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGGCATACATGTCTTTGATGCCA[A/G]TGAGCCGGCAGATGGTGATGATGGC
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 1037 Missense Mutation ACT,ATT T248I NP_001308924.1
NM_001321996.1 1037 Missense Mutation ACT,ATT T161I NP_001308925.1
NM_001321997.1 1037 Missense Mutation ACT,ATT T161I NP_001308926.1
NM_031902.4 1037 Missense Mutation ACT,ATT T327I NP_114108.1

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