Product Details

SNP ID
rs148982703
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:20779404 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCCGCTGGATCAGCTAGAGAAAG[A/G]AGGGGAAACTGCTCAGTCTGCAGAT
Phenotype
MIM: 600286 MIM: 142360
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PI4KA PubMed Links

Gene Details

Gene
PI4KA
Gene Name
phosphatidylinositol 4-kinase alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_058004.3 159 Intron NP_477352.3
XM_005261634.1 159 Intron XP_005261691.1
XM_005261635.1 159 Intron XP_005261692.1
XM_011530226.1 159 Intron XP_011528528.1
XM_011530228.2 159 Intron XP_011528530.1
XM_017028829.1 159 Intron XP_016884318.1
XM_017028830.1 159 Intron XP_016884319.1
Gene
SERPIND1
Gene Name
serpin family D member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000185.3 159 Missense Mutation GAA,GGA E31G NP_000176.2

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