Product Details

SNP ID
rs199550062
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:160756579 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCAAGACCTGGGAGTTCAAGAAC[C/T]ACAACGTGGCGGTGTACTCCATCCA
Phenotype
MIM: 611931
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PPM1L PubMed Links

Gene Details

Gene
PPM1L
Gene Name
protein phosphatase, Mg2+/Mn2+ dependent 1L
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317911.1 1048 Intron NP_001304840.1
NM_001317912.1 1048 Intron NP_001304841.1
NM_139245.3 1048 Missense Mutation CAC,TAC H91Y NP_640338.2
XM_011512440.2 1048 Missense Mutation CAC,TAC H91Y XP_011510742.1

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