Product Details

SNP ID
rs142719386
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:74472654 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCAGACCAAGCCGAGCCAAGGCAG[C/T]TGCCATGGTGACCTCCGCCCCGGAA
Phenotype
MIM: 601336 MIM: 611857
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CCDC142 PubMed Links
Additional Information
For this assay, SNP(s) [rs1047911] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
CCDC142
Gene Name
coiled-coil domain containing 142
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032779.3 162 Intron NP_116168.3
Gene
MOGS
Gene Name
mannosyl-oligosaccharide glucosidase
There are no transcripts associated with this gene.

Gene
MRPL53
Gene Name
mitochondrial ribosomal protein L53
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_053050.4 162 Missense Mutation ACT,GCT T3A NP_444278.1

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