Product Details

SNP ID
rs200554338
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:68780918 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGATGGAAACAGCAGCAGTGCC[A/G]GATCTTCTTGTAACTCACCAGCGAA
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_138333.4 913 Missense Mutation AGA,GGA R294G 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_001278253.1 913 Intron NP_001265182.1
NM_003558.3 913 Intron NP_003549.1
XM_005252261.3 913 Intron XP_005252318.1
XM_005252262.4 913 Intron XP_005252319.1
XM_006717300.2 913 Intron XP_006717363.1
XM_006717301.1 913 Intron XP_006717364.1
XM_011519082.2 913 Intron XP_011517384.1
XM_011519083.2 913 Intron XP_011517385.1
XM_011519084.2 913 Intron XP_011517386.1
XM_017015188.1 913 Intron XP_016870677.1
XM_017015189.1 913 Intron XP_016870678.1
XM_017015190.1 913 Intron XP_016870679.1
XM_017015191.1 913 Intron XP_016870680.1

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