Product Details

SNP ID

rs6712141

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:6849902 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAGGCTTAATACCGTCTGCAGGACC[C/T]TTTCTCTGGAGGGGCTGGCATCAAC

Phenotype

MIM: 611787

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CMPK2 PubMed Links

Gene Details

Gene

CMPK2

Gene Name

cytidine/uridine monophosphate kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256477.1	1421	Intron			NP_001243406.1
NM_001256478.1	1421	Intron			NP_001243407.1
NM_207315.3	1421	Missense Mutation	AAG,AGG	K433R	NP_997198.2

Gene

NRIR

Gene Name

negative regulator of interferon response (non-protein coding)

There are no transcripts associated with this gene.

View Full Product Details