Product Details

SNP ID
rs61744358
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:6599951 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACCGGGGTGGATGGACCCCCGCC[G/T]GGTCACAGCCTGCTGTCACGTCTGG
Phenotype
MIM: 610916
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
NSUN2 PubMed Links

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 2660 Missense Mutation CGG,CTG R725L NP_001180384.1
NM_017755.5 2660 Missense Mutation CGG,CTG R760L NP_060225.4

View Full Product Details