Product Details

SNP ID
rs116453319
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:68780692 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGATTGCCTCCAAGCCCTATTCC[C/T]AGCCCAACGACCCGATTTACCACCC
Phenotype
MIM: 602745
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM122A PubMed Links

Gene Details

Gene
FAM122A
Gene Name
family with sequence similarity 122A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138333.4 687 Silent Mutation CCC,CCT P218P NP_612206.4
Gene
PIP5K1B
Gene Name
phosphatidylinositol-4-phosphate 5-kinase type 1 beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278253.1 687 Intron NP_001265182.1
NM_003558.3 687 Intron NP_003549.1
XM_005252261.3 687 Intron XP_005252318.1
XM_005252262.4 687 Intron XP_005252319.1
XM_006717300.2 687 Intron XP_006717363.1
XM_006717301.1 687 Intron XP_006717364.1
XM_011519082.2 687 Intron XP_011517384.1
XM_011519083.2 687 Intron XP_011517385.1
XM_011519084.2 687 Intron XP_011517386.1
XM_017015188.1 687 Intron XP_016870677.1
XM_017015189.1 687 Intron XP_016870678.1
XM_017015190.1 687 Intron XP_016870679.1
XM_017015191.1 687 Intron XP_016870680.1

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