Product Details

SNP ID

rs41268733

Assay Type

Functionally tested

NCBI dbSNP Submissions

22

Location

Chr.1:226634679 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGGGCGTGGGCAGCTCAGGCGA[C/G]TGGGGCATCCTGGGACATCTCGGTC

Phenotype

MIM: 147522

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ITPKB PubMed Links

Gene Details

Gene

ITPKB

Gene Name

inositol-trisphosphate 3-kinase B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002221.3	3173	Missense Mutation	CTC,GTC	L945V	NP_002212.3
XM_005273120.2	3173	Intron			XP_005273177.1
XM_017001211.1	3173	Intron			XP_016856700.1

View Full Product Details