Product Details

SNP ID
rs115603375
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:72323502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGGGTTGTGGATATACCTCCTTG[A/G]TCCTCCTTTATGAACACATCTAAGA
Phenotype
MIM: 611989 MIM: 615484
Polymorphism
A/G, Transition 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 Intron NP_001271332.1
NM_001284404.1 Intron NP_001271333.1
NM_001284405.1 Intron NP_001271334.1
NM_024754.4 Intron NP_079030.3
XM_005248601.2 Intron XP_005248658.1
XM_005248603.2 Intron XP_005248660.1
XM_017009866.1 Intron XP_016865355.1
XM_017009867.1 Intron XP_016865356.1
XM_017009868.1 Intron XP_016865357.1

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