Product Details

SNP ID
rs143551642
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:6600036 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCCTGCTCTCTGTCCCTCAGTCA[C/T]GTCATTGTCTGGCTGTCCGGTGCTG
Phenotype
MIM: 610916
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
NSUN2 PubMed Links
Additional Information
For this assay, SNP(s) [rs3822434] 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
NSUN2
Gene Name
NOP2/Sun RNA methyltransferase family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193455.1 2575 Missense Mutation ATG,GTG M697V NP_001180384.1
NM_017755.5 2575 Missense Mutation ATG,GTG M732V NP_060225.4

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