Product Details

SNP ID: rs4482466
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:68188588 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCGCTGTACTAAAGGATTCTGTTGT[A/G]ACTCAGGCAGAGACATGAACTCTTC
Phenotype: MIM: 601302
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: PPP3R1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000945.3	538	Missense Mutation	TCA,TTA	S49L	NP_000936.1