Product Details

SNP ID
rs201601819
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:68780873 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTTGCACAGCTGTCAGATCCTGGT[A/G]TGTGTGTATCTTCGGATACCCTTGA
Phenotype
MIM: 602745
Polymorphism
A/G, 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_138333.4 868 Missense Mutation ATG,GTG M279V 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_001278253.1 868 Intron NP_001265182.1
NM_003558.3 868 Intron NP_003549.1
XM_005252261.3 868 Intron XP_005252318.1
XM_005252262.4 868 Intron XP_005252319.1
XM_006717300.2 868 Intron XP_006717363.1
XM_006717301.1 868 Intron XP_006717364.1
XM_011519082.2 868 Intron XP_011517384.1
XM_011519083.2 868 Intron XP_011517385.1
XM_011519084.2 868 Intron XP_011517386.1
XM_017015188.1 868 Intron XP_016870677.1
XM_017015189.1 868 Intron XP_016870678.1
XM_017015190.1 868 Intron XP_016870679.1
XM_017015191.1 868 Intron XP_016870680.1

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