Product Details

SNP ID

rs200232369

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:6600093 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCATTTGTGAGGATAACCCCTT[C/T]CTTCTTCTTTTCTCCCAATACCTCC

Phenotype

MIM: 610916

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	2518	Missense Mutation	AAA,GAA	K678E	NP_001180384.1
NM_017755.5	2518	Missense Mutation	AAA,GAA	K713E	NP_060225.4

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