Product Details

SNP ID

rs115057664

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:201468630 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGCCTTGATGCGGGCGAAGCTGA[A/G]CTCCTTGGGCCGGCCGCCCGTGCCC

Phenotype

MIM: 607054

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PHLDA3 PubMed Links

Gene Details

Gene

PHLDA3

Gene Name

pleckstrin homology like domain family A member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012396.4	542	Missense Mutation	CTC,TTC	L53F	NP_036528.1

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