Product Details

SNP ID

rs74480568

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:20779375 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATAACATCTGCGTGGGGTGGGAG[C/G]AAAGGCCCGCTGGATCAGCTAGAGA

Phenotype

MIM: 600286 MIM: 142360

Polymorphism

C/G, Transversion 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	130	Intron			NP_477352.3
XM_005261634.1	130	Intron			XP_005261691.1
XM_005261635.1	130	Intron			XP_005261692.1
XM_011530226.1	130	Intron			XP_011528528.1
XM_011530228.2	130	Intron			XP_011528530.1
XM_017028829.1	130	Intron			XP_016884318.1
XM_017028830.1	130	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	130	Missense Mutation	AGC,AGG	S21R	NP_000176.2

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