Product Details

SNP ID
rs199510060
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:72320499 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCGGCTCTGTCAGCTGCCGCTG[A/C]CCTCTCGGAGGTATCCGCGGCTTTA
Phenotype
MIM: 611989 MIM: 615484
Polymorphism
A/C, 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_001286748.1 119 Intron NP_001273677.1
NM_001286751.1 119 Intron NP_001273680.1
NM_015084.2 119 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_001284403.1 119 Nonsense Mutation TGA,TGC *39C NP_001271332.1
NM_001284404.1 119 UTR 5 NP_001271333.1
NM_001284405.1 119 UTR 5 NP_001271334.1
NM_024754.4 119 Nonsense Mutation TGA,TGC *39C NP_079030.3
XM_005248601.2 119 Nonsense Mutation TGA,TGC *39C XP_005248658.1
XM_005248603.2 119 UTR 5 XP_005248660.1
XM_017009866.1 119 UTR 5 XP_016865355.1
XM_017009867.1 119 UTR 5 XP_016865356.1
XM_017009868.1 119 UTR 5 XP_016865357.1

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