Product Details

SNP ID
rs201371528
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:72320462 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCGCTGCAGATTTTGGTGTATC[C/G]TGGGGTGGGAGGCTCCGGCTCTGTC
Phenotype
MIM: 611989 MIM: 615484
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MRPS27 PubMed Links

Gene Details

Gene
MRPS27
Gene Name
mitochondrial ribosomal protein S27
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286748.1 82 Intron NP_001273677.1
NM_001286751.1 82 Intron NP_001273680.1
NM_015084.2 82 Intron NP_055899.2
Gene
PTCD2
Gene Name
pentatricopeptide repeat domain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284403.1 82 Missense Mutation CCT,CGT P27R NP_001271332.1
NM_001284404.1 82 UTR 5 NP_001271333.1
NM_001284405.1 82 UTR 5 NP_001271334.1
NM_024754.4 82 Missense Mutation CCT,CGT P27R NP_079030.3
XM_005248601.2 82 Missense Mutation CCT,CGT P27R XP_005248658.1
XM_005248603.2 82 UTR 5 XP_005248660.1
XM_017009866.1 82 UTR 5 XP_016865355.1
XM_017009867.1 82 UTR 5 XP_016865356.1
XM_017009868.1 82 UTR 5 XP_016865357.1

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