Product Details

SNP ID
rs141945877
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:6633831 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCGTCTCCGCAGCGCGCCCAACTG[C/T]ATCCTCCTGGCCATGTTCCTCGTCC
Phenotype
MIM: 610916 MIM: 184753
Polymorphism
C/T, Transition 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_001193455.1 510 Intron NP_001180384.1
NM_017755.5 510 Intron NP_060225.4
Gene
SRD5A1
Gene Name
steroid 5 alpha-reductase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001047.3 510 Silent Mutation TGC,TGT C85C NP_001038.1
NM_001324322.1 510 Missense Mutation GCA,GTA A94V NP_001311251.1
NM_001324323.1 510 UTR 5 NP_001311252.1

View Full Product Details