Product Details

SNP ID

rs188291383

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:47334023 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGCAGACCCGCCGGCCGATTCT[C/T]CTCTGCTCTCCACGTCTCATGAAGC

Phenotype

MIM: 191710

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CMPK1 PubMed Links

Gene Details

Gene

CMPK1

Gene Name

cytidine/uridine monophosphate kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136140.1	227	Silent Mutation	CTC,CTT	L26L	NP_001129612.1
NM_016308.2	227	Silent Mutation	CTC,CTT	L26L	NP_057392.1

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