Product Details

SNP ID

rs139710758

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38251341 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCAGGGGTGAGCAGTCCGGGCCC[A/G]GTCCTGGAGGGGGCTGAGGCTGCCG

Phenotype

MIM: 608153

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PPP1R14A PubMed Links

Gene Details

Gene

PPP1R14A

Gene Name

protein phosphatase 1 regulatory inhibitor subunit 14A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243947.1	673	Missense Mutation	CGG,TGG	R114W	NP_001230876.1
NM_033256.2	673	Missense Mutation	CGG,TGG	R141W	NP_150281.1

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