Product Details

SNP ID: rs188004065
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:17089917 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTTTCTTTGCTATATCCACTGTATA[C/G]AAGCTACAACAAAGGAAAAAAGAAC
Phenotype: MIM: 603601
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: PIK3C2A PubMed Links

Gene Details

Gene: PIK3C2A
Gene Name: phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321378.1	5112	Missense Mutation	CTA,GTA	L1628V	NP_001308307.1
NM_001321380.1	5112	Missense Mutation	CTA,GTA	L1248V	NP_001308309.1
NM_002645.3	5112	Missense Mutation	CTA,GTA	L1628V	NP_002636.2
XM_011520186.2	5112	Missense Mutation	CTA,GTA	L1572V	XP_011518488.1
XM_017017924.1	5112	Missense Mutation	CTA,GTA	L1628V	XP_016873413.1