Product Details

SNP ID
rs200974893
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:39630003 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGGAGAGGGGCACCATCTCAAGT[C/T]GAAGAGACCCAACCCCTGTGCCTAC
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 1017 Missense Mutation TCG,TTG S30L NP_001229393.1
NM_032192.3 1017 Missense Mutation TCG,TTG S66L NP_115568.2
NM_181505.3 1017 Missense Mutation TCG,TTG S30L NP_852606.1
XM_017025216.1 1017 Missense Mutation TCG,TTG S66L XP_016880705.1
XM_017025217.1 1017 Missense Mutation TCG,TTG S30L 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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