Product Details

SNP ID

rs139015820

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38252953 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTCCAACAATTCATCAATGTTGA[C/T]CTCATCGGGCATGTCTGCCTCCTAG

Phenotype

MIM: 608153

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PPP1R14A PubMed Links

Additional Information

For this assay, SNP(s) [rs10993] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	475	Intron			NP_001230876.1
NM_033256.2	475	Missense Mutation	ATC,GTC	I75V	NP_150281.1

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