Product Details

SNP ID

rs201189285

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:6600020 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTGGGCTGTTGGGCTCTCCTGCT[C/G]TCTGTCCCTCAGTCACGTCATTGTC

Phenotype

MIM: 610916

Polymorphism

C/G, 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	2591	Missense Mutation	ACA,AGA	T702R	NP_001180384.1
NM_017755.5	2591	Missense Mutation	ACA,AGA	T737R	NP_060225.4

View Full Product Details