Product Details

SNP ID
rs147363042
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:159804086 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAATCAGTATGGCTTCAACTATAAC[A/G]AGGTATGGCATTGGAGGAGGGGAAC
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_001271862.1 455 Missense Mutation AAG,GAG K124E NP_001258791.1
NM_173516.2 455 Missense Mutation AAG,GAG K113E NP_775787.1
XM_011535491.2 455 Missense Mutation AAG,GAG K113E XP_011533793.1
XM_011535493.2 455 Intron XP_011533795.1
XM_017010312.1 455 Missense Mutation AAG,GAG K156E XP_016865801.1
XM_017010313.1 455 Missense Mutation AAG,GAG K118E XP_016865802.1
XM_017010314.1 455 Missense Mutation AAG,GAG K156E XP_016865803.1
XM_017010315.1 455 Missense Mutation AAG,GAG K86E XP_016865804.1
XM_017010316.1 455 Missense Mutation AAG,GAG K75E XP_016865805.1

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