Product Details

SNP ID
rs142182527
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:159803971 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATGTTTGTTTTATTATAGGTATAT[A/G]GCCCATTCTTGTAACTTCTATCTCT
Phenotype
MIM: 611831
Polymorphism
A/G, Transition 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_001271862.1 340 Missense Mutation ATA,ATG I85M NP_001258791.1
NM_173516.2 340 Missense Mutation ATA,ATG I74M NP_775787.1
XM_011535491.2 340 Missense Mutation ATA,ATG I74M XP_011533793.1
XM_011535493.2 340 Intron XP_011533795.1
XM_017010312.1 340 Missense Mutation ATA,ATG I117M XP_016865801.1
XM_017010313.1 340 Missense Mutation ATA,ATG I79M XP_016865802.1
XM_017010314.1 340 Missense Mutation ATA,ATG I117M XP_016865803.1
XM_017010315.1 340 Missense Mutation ATA,ATG I47M XP_016865804.1
XM_017010316.1 340 Missense Mutation ATA,ATG I36M XP_016865805.1

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