Product Details

SNP ID

rs200680247

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:60600763 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGCGGGAGGCGGCACAGTTTGCC[C/G]GGGAGCACTTGTGGGGTTTCATCAA

Phenotype

MIM: 605100

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PPM1D PubMed Links

Gene Details

Gene

PPM1D

Gene Name

protein phosphatase, Mg2+/Mn2+ dependent 1D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003620.3	581	Missense Mutation	CGG,GGG	R117G	NP_003611.1

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