Product Details

SNP ID
rs140199436
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:39630020 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCAAGTCGAAGAGACCCAACCCC[C/T]GTGCCTACACACCACCTTCGCTGAA
Phenotype
MIM: 604399 MIM: 607048
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
PPP1R1B PubMed Links

Gene Details

Gene
PPP1R1B
Gene Name
protein phosphatase 1 regulatory inhibitor subunit 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242464.1 1034 Missense Mutation CGT,TGT R36C NP_001229393.1
NM_032192.3 1034 Missense Mutation CGT,TGT R72C NP_115568.2
NM_181505.3 1034 Missense Mutation CGT,TGT R36C NP_852606.1
XM_017025216.1 1034 Missense Mutation CGT,TGT R72C XP_016880705.1
XM_017025217.1 1034 Missense Mutation CGT,TGT R36C XP_016880706.1
Gene
STARD3
Gene Name
StAR related lipid transfer domain containing 3
There are no transcripts associated with this gene.

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