Product Details

SNP ID

rs2595173

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:6866508 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AACTGGGAAGTGTCGCCCAGATTGG[A/C]ACCTCGAAATCGCCTTTCTTCCACC

Phenotype

MIM: 611787 MIM: 607810

Polymorphism

A/C, Transversion 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		Intron			NP_001243406.1
NM_001256478.1		Intron			NP_001243407.1
NM_207315.3		Intron			NP_997198.2

Gene

RSAD2

Gene Name

radical S-adenosyl methionine domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080657.4		Intron			NP_542388.2
XM_011510414.2		Intron			XP_011508716.1
XM_011510415.2		Intron			XP_011508717.1

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