Product Details

SNP ID
rs200538624
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:50143628 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCCGATGGGCCGCACCACCCTCC[A/G]TCACGGTCTTGACGAAGATACCCAG
Phenotype
MIM: 603325
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PPP1R9B PubMed Links

Gene Details

Gene
PPP1R9B
Gene Name
protein phosphatase 1 regulatory subunit 9B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032595.4 2109 Missense Mutation ACG,ATG T532M NP_115984.3
XM_011525381.2 2109 Missense Mutation ACG,ATG T532M XP_011523683.1

View Full Product Details