Product Details

SNP ID
rs147106062
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:88265006 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCAGAAGCTCTGGGTCACCTGTT[C/T]AGTCACCGCATGGGCTGCTTCGTTG
Phenotype
MIM: 611065
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PPM1K PubMed Links

Gene Details

Gene
PPM1K
Gene Name
protein phosphatase, Mg2+/Mn2+ dependent 1K
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152542.4 706 Missense Mutation AAA,GAA K328E NP_689755.3
XM_005262775.3 706 Intron XP_005262832.1
XM_006714111.3 706 Missense Mutation AAA,GAA K328E XP_006714174.1
XM_017007803.1 706 Missense Mutation AAA,GAA K328E XP_016863292.1
XM_017007804.1 706 Missense Mutation AAA,GAA K219E XP_016863293.1
XM_017007805.1 706 Missense Mutation AAA,GAA K219E XP_016863294.1
XM_017007806.1 706 Missense Mutation AAA,GAA K219E XP_016863295.1
XM_017007807.1 706 Missense Mutation AAA,GAA K200E XP_016863296.1

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