Product Details

SNP ID

rs146652385

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:57561442 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCAGCTGCAAAACGGCCTGAAC[C/T]TCTCGGCCAAAGTTGTCCAGGGAAG

Phenotype

MIM: 614168

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PCK1 PubMed Links

Gene Details

Gene

PCK1

Gene Name

phosphoenolpyruvate carboxykinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002591.3	194	Missense Mutation	CTC,TTC	L11F	NP_002582.3
XM_011528839.1	194	UTR 5			XP_011527141.1

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