Product Details

SNP ID
rs138792278
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:35123406 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTCTCTTAAAACAATGTCTCCAC[A/G]GAATACCAAAGCAACGAATCTGATT
Phenotype
MIM: 609947 MIM: 615902
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KIAA0391 PubMed Links

Gene Details

Gene
KIAA0391
Gene Name
KIAA0391
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256678.1 542 Missense Mutation CAG,CGG Q54R NP_001243607.1
NM_001256679.1 542 Intron NP_001243608.1
NM_001256680.1 542 Intron NP_001243609.1
NM_001256681.1 542 Intron NP_001243610.1
NM_014672.3 542 Missense Mutation CAG,CGG Q54R NP_055487.2
XM_005268237.3 542 Missense Mutation CAG,CGG Q54R XP_005268294.1
XM_011537409.2 542 Missense Mutation CAG,CGG Q54R XP_011535711.1
XM_011537410.2 542 Missense Mutation CAG,CGG Q54R XP_011535712.1
XM_017021835.1 542 Missense Mutation CAG,CGG Q54R XP_016877324.1
XM_017021836.1 542 Missense Mutation CAG,CGG Q54R XP_016877325.1
XM_017021837.1 542 Missense Mutation CAG,CGG Q54R XP_016877326.1
Gene
PPP2R3C
Gene Name
protein phosphatase 2 regulatory subunit B''gamma
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001305155.1 542 Intron NP_001292084.1
NM_001305156.1 542 Intron NP_001292085.1
NM_017917.3 542 Intron NP_060387.2
XM_005267782.3 542 Intron XP_005267839.1
XM_017021388.1 542 Intron XP_016876877.1
XM_017021389.1 542 Intron XP_016876878.1

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