Product Details

SNP ID
rs201030424
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:72322238 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATTTCAACAAAAGAAAGTGGCTG[T/G]TGCATGTAATCTTTCTGGCACTAAA
Phenotype
MIM: 611989 MIM: 615484
Polymorphism
T/G, Transversion Substitution
Allele Nomenclature
Literature Links
MRPS27 PubMed Links

Gene Details

Gene
MRPS27
Gene Name
mitochondrial ribosomal protein S27
There are no transcripts associated with this gene.

Gene
PTCD2
Gene Name
pentatricopeptide repeat domain 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284403.1 196 Missense Mutation GGT,GTT G65V NP_001271332.1
NM_001284404.1 196 UTR 5 NP_001271333.1
NM_001284405.1 196 UTR 5 NP_001271334.1
NM_024754.4 196 Missense Mutation GGT,GTT G65V NP_079030.3
XM_005248601.2 196 Missense Mutation GGT,GTT G65V XP_005248658.1
XM_005248603.2 196 UTR 5 XP_005248660.1
XM_017009866.1 196 UTR 5 XP_016865355.1
XM_017009867.1 196 UTR 5 XP_016865356.1
XM_017009868.1 196 UTR 5 XP_016865357.1

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