Product Details

SNP ID

rs148984948

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:41957628 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTATAAAGCTGTCCTGGAAGACCCA[A/G]TGTTGAAGTTCTCAGGACTATATCA

Phenotype

MIM: 602609

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PIK3C3 PubMed Links

Gene Details

Gene

PIK3C3

Gene Name

phosphatidylinositol 3-kinase catalytic subunit type 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308020.1	221	Intron			NP_001294949.1
NM_002647.3	221	Missense Mutation	ATG,GTG	M43V	NP_002638.2
XM_011526031.2	221	UTR 5			XP_011524333.1

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