Product Details

SNP ID
rs145436984
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:95100843 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAATAGATTATCACTCACTTGTAT[C/G]GTCTTCATATCGTTCTATATAATGC
Phenotype
MIM: 611972
Polymorphism
C/G, Transversion 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_001321995.1 919 Missense Mutation CAT,GAT H209D NP_001308924.1
NM_001321996.1 919 Missense Mutation CAT,GAT H122D NP_001308925.1
NM_001321997.1 919 Missense Mutation CAT,GAT H122D NP_001308926.1
NM_031902.4 919 Missense Mutation CAT,GAT H288D NP_114108.1

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