Product Details

SNP ID

rs190856530

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:62717226 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGTGCAGGAGGAAGGCATGGAC[A/T]CGGAGATTGGCTGCCTCATCCGCTT

Phenotype

MIM: 609396

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

PHLPP1 PubMed Links

Gene Details

Gene

PHLPP1

Gene Name

PH domain and leucine rich repeat protein phosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_194449.3	1788	Missense Mutation	ACG,TCG	T515S	NP_919431.2
XM_011525886.1	1788	Missense Mutation	ACG,TCG	T515S	XP_011524188.1

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