Product Details

SNP ID

rs200726804

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178490673 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCATCATAGTTCATTCAGCAGAC[A/C]ACACAAGAATGGAATTAATCATTCC

Phenotype

MIM: 607774

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PLEKHA3 PubMed Links

Gene Details

Gene

PLEKHA3

Gene Name

pleckstrin homology domain containing A3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019091.3	679	Missense Mutation	AAC,CAC	N58H	NP_061964.3
XM_011511689.2	679	UTR 5			XP_011509991.1

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