Product Details

SNP ID
rs140968331
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:159800741 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGAGTGCTGGCGATGTTCTGCACC[C/T]GAGGACTGCTATTTTTTGCCTTCCT
Phenotype
MIM: 611831
Polymorphism
C/T, 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_001271862.1 131 Intron NP_001258791.1
NM_173516.2 131 Nonsense Mutation CGA,TGA R5* NP_775787.1
XM_011535491.2 131 Nonsense Mutation CGA,TGA R5* XP_011533793.1
XM_011535493.2 131 Intron XP_011533795.1
XM_017010312.1 131 Intron XP_016865801.1
XM_017010313.1 131 Intron XP_016865802.1
XM_017010314.1 131 Intron XP_016865803.1
XM_017010315.1 131 Intron XP_016865804.1
XM_017010316.1 131 Nonsense Mutation CGA,TGA R5* XP_016865805.1

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