Product Details

SNP ID
rs200346918
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:18647928 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGGACATGTCTTAATGCTTATTG[C/T]GAAGAGTAAAACTGTATTTGTGGGA
Phenotype
MIM: 609001 MIM: 608075
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PIK3C2G PubMed Links

Gene Details

Gene
PIK3C2G
Gene Name
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001288772.1 4477 Missense Mutation GCG,GTG A1454V NP_001275701.1
NM_001288774.1 4477 Missense Mutation GCG,GTG A1232V NP_001275703.1
NM_004570.5 4477 Missense Mutation GCG,GTG A1413V NP_004561.3
XM_011520696.2 4477 Intron XP_011518998.1
XM_011520697.2 4477 Intron XP_011518999.1
XM_011520700.2 4477 Intron XP_011519002.1
XM_011520701.2 4477 Intron XP_011519003.1
XM_017019470.1 4477 Intron XP_016874959.1
XM_017019471.1 4477 Intron XP_016874960.1
XM_017019472.1 4477 Intron XP_016874961.1
XM_017019473.1 4477 Intron XP_016874962.1
XM_017019474.1 4477 Intron XP_016874963.1
XM_017019475.1 4477 Intron XP_016874964.1
XM_017019476.1 4477 Intron XP_016874965.1
XM_017019477.1 4477 Intron XP_016874966.1
XM_017019478.1 4477 Intron XP_016874967.1
XM_017019479.1 4477 Intron XP_016874968.1
Gene
PLCZ1
Gene Name
phospholipase C zeta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033123.3 4477 Intron NP_149114.2
XM_005253519.2 4477 Intron XP_005253576.1
XM_011520883.1 4477 Intron XP_011519185.1
XM_017020176.1 4477 Intron XP_016875665.1
XM_017020177.1 4477 Intron XP_016875666.1
XM_017020178.1 4477 Intron XP_016875667.1
XM_017020179.1 4477 Intron XP_016875668.1
XM_017020180.1 4477 Intron XP_016875669.1
XM_017020181.1 4477 Intron XP_016875670.1
XM_017020182.1 4477 Intron XP_016875671.1
XM_017020183.1 4477 Intron XP_016875672.1
XM_017020184.1 4477 Intron XP_016875673.1
XM_017020185.1 4477 Intron XP_016875674.1
XM_017020186.1 4477 Intron XP_016875675.1

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