Product Details

SNP ID

rs147428443

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:38251334 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAGAGGGTCAGGGGTGAGCAGTC[C/T]GGGCCCGGTCCTGGAGGGGGCTGAG

Phenotype

MIM: 608153

Polymorphism

C/T, 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	680	Missense Mutation			NP_001230876.1
NM_033256.2	680	Missense Mutation			NP_150281.1

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