Product Details

SNP ID: rs79180199
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.8:30791299 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAAAATGGTAACCACATTCCGATCA[G/T]GACACCAATTGTATCCCTGCAGGAT
Phenotype: MIM: 176916
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: PPP2CB PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009552.1	1170	Missense Mutation	CAT,CCT	H252P	NP_001009552.1