Product Details

SNP ID
rs148973686
Assay Type
Functionally Tested
NCBI dbSNP Submissions
7
Location
Chr.1:204424974 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGACGTTCTCCCAGAATCCCTGCT[C/G]ACTCAGCACGCTCAGCTGGAGCTCC
Phenotype
MIM: 602838
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
PIK3C2B PubMed Links

Gene Details

Gene
PIK3C2B
Gene Name
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002646.3 4208 Missense Mutation CAG,GAG Q1595E NP_002637.3
XM_005245257.2 4208 Missense Mutation CAG,GAG Q1595E XP_005245314.1
XM_005245258.3 4208 Missense Mutation CAG,GAG Q1568E XP_005245315.1
XM_011509630.2 4208 Missense Mutation CAG,GAG Q1595E XP_011507932.1
XM_011509631.2 4208 Missense Mutation CAG,GAG Q1595E XP_011507933.1
XM_011509633.2 4208 Intron XP_011507935.1
XM_017001473.1 4208 Missense Mutation CAG,GAG Q1595E XP_016856962.1
XM_017001474.1 4208 Missense Mutation CAG,GAG Q1595E XP_016856963.1
XM_017001475.1 4208 Missense Mutation CAG,GAG Q1031E XP_016856964.1

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