Product Details

SNP ID
rs138783249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:6633830 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCGTCTCCGCAGCGCGCCCAACT[G/T]CATCCTCCTGGCCATGTTCCTCGTC
Phenotype
MIM: 610916 MIM: 184753
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_001193455.1 509 Intron NP_001180384.1
NM_017755.5 509 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_001047.3 509 Missense Mutation TGC,TTC C85F NP_001038.1
NM_001324322.1 509 Missense Mutation GCA,TCA A94S NP_001311251.1
NM_001324323.1 509 UTR 5 NP_001311252.1

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