Product Details

SNP ID
rs111439746
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:38771145 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAGGAGCAGAGTAGGTTGCCACCC[A/C]CCCCATCATTCTCACACTCCTCGTC
Phenotype
MIM: 603261 MIM: 602176
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PIP4K2B PubMed Links

Gene Details

Gene
PIP4K2B
Gene Name
phosphatidylinositol-5-phosphate 4-kinase type 2 beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003559.4 1379 Missense Mutation GGG,GTG G312V NP_003550.1
XM_011525326.2 1379 Missense Mutation GGG,GTG G339V XP_011523628.1
XM_011525327.2 1379 Missense Mutation GGG,GTG G275V XP_011523629.1
XM_011525329.2 1379 Intron XP_011523631.1
XM_011525330.2 1379 Missense Mutation GGG,GTG G180V XP_011523632.1
XM_017025196.1 1379 Missense Mutation GGG,GTG G248V XP_016880685.1
XM_017025197.1 1379 Missense Mutation GGG,GTG G174V XP_016880686.1
XM_017025198.1 1379 Missense Mutation GGG,GTG G153V XP_016880687.1
XM_017025199.1 1379 Missense Mutation GGG,GTG G144V XP_016880688.1
Gene
PSMB3
Gene Name
proteasome subunit beta 3
There are no transcripts associated with this gene.

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