Product Details

SNP ID
rs202124526
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:139344103 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGGCGTGGAACGGGTCTGTTTCC[A/G]GGCTCGAATCCAGCCCTGGCACGGT
Phenotype
MIM: 605810
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MRPS22 PubMed Links

Gene Details

Gene
MRPS22
Gene Name
mitochondrial ribosomal protein S22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020191.2 84 Missense Mutation CAG,CGG Q26R NP_064576.1
XM_005247640.2 84 Missense Mutation CAG,CGG Q26R XP_005247697.1
XM_006713703.3 84 Missense Mutation CAG,CGG Q26R XP_006713766.1
XM_011512995.2 84 Intron XP_011511297.1
XM_011512996.2 84 Intron XP_011511298.1

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