Product Details

SNP ID
rs142451779
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:39630040 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCCTGTGCCTACACACCACCTTC[A/G]CTGAAAGGTACTATACCCCCACCGA
Phenotype
MIM: 604399 MIM: 607048
Polymorphism
A/G, 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 1054 Silent Mutation TCA,TCG S42S NP_001229393.1
NM_032192.3 1054 Silent Mutation TCA,TCG S78S NP_115568.2
NM_181505.3 1054 Silent Mutation TCA,TCG S42S NP_852606.1
XM_017025216.1 1054 Silent Mutation TCA,TCG S78S XP_016880705.1
XM_017025217.1 1054 Silent Mutation TCA,TCG S42S 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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