Product Details

SNP ID

rs1046996

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:41957609 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGAGAGAACAAAAGAGTTATAA[A/C]GCTGTCCTGGAAGACCCAATGTTGA

Phenotype

MIM: 602609

Polymorphism

A/C, Transversion 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	202	Intron			NP_001294949.1
NM_002647.3	202	Missense Mutation	AAA,AAC	K36N	NP_002638.2
XM_011526031.2	202	UTR 5			XP_011524333.1

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