Product Details

SNP ID
rs138958903
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:159803993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATAGCCCATTCTTGTAACTTCTAT[C/G]TCTTCCCTACAACGTTTGGGATTTT
Phenotype
MIM: 611831
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MRPL18 PubMed Links

Gene Details

Gene
MRPL18
Gene Name
mitochondrial ribosomal protein L18
There are no transcripts associated with this gene.

Gene
PNLDC1
Gene Name
PARN like, ribonuclease domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271862.1 362 Missense Mutation CTC,GTC L93V NP_001258791.1
NM_173516.2 362 Missense Mutation CTC,GTC L82V NP_775787.1
XM_011535491.2 362 Missense Mutation CTC,GTC L82V XP_011533793.1
XM_011535493.2 362 Intron XP_011533795.1
XM_017010312.1 362 Missense Mutation CTC,GTC L125V XP_016865801.1
XM_017010313.1 362 Missense Mutation CTC,GTC L87V XP_016865802.1
XM_017010314.1 362 Missense Mutation CTC,GTC L125V XP_016865803.1
XM_017010315.1 362 Missense Mutation CTC,GTC L55V XP_016865804.1
XM_017010316.1 362 Missense Mutation CTC,GTC L44V XP_016865805.1

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