Product Details

SNP ID
rs139012235
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:17089793 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATTTAACCGTCTCTTTGCTCAAG[C/T]TGAAATCTTTCAAAGGCAGGGTTAC
Phenotype
MIM: 603601
Polymorphism
C/T, Transition 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 5236 Missense Mutation AAC,AGC N1669S NP_001308307.1
NM_001321380.1 5236 Missense Mutation AAC,AGC N1289S NP_001308309.1
NM_002645.3 5236 Missense Mutation AAC,AGC N1669S NP_002636.2
XM_011520186.2 5236 Missense Mutation AAC,AGC N1613S XP_011518488.1
XM_017017924.1 5236 Missense Mutation AAC,AGC N1669S XP_016873413.1

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