Product Details

SNP ID
rs147597470
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:67404353 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTGGGGGCAGCTCAGCAGAGCCA[C/G]GGTAAGGGGGCAGGGTGAGGGCTGG
Phenotype
MIM: 176875 MIM: 603761 MIM: 610831
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PPP1CA PubMed Links

Gene Details

Gene
PPP1CA
Gene Name
protein phosphatase 1 catalytic subunit alpha
There are no transcripts associated with this gene.

Gene
RAD9A
Gene Name
RAD9 checkpoint clamp component A
There are no transcripts associated with this gene.

Gene
TBC1D10C
Gene Name
TBC1 domain family member 10C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001256508.1 467 Missense Mutation CGG,GGG R51G NP_001243437.1
NM_198517.3 467 Missense Mutation CGG,GGG R51G NP_940919.1
XM_006718538.3 467 Missense Mutation CGG,GGG R51G XP_006718601.1
XM_006718539.3 467 Missense Mutation CGG,GGG R51G XP_006718602.1
XM_006718540.3 467 Missense Mutation CGG,GGG R51G XP_006718603.1
XM_006718541.3 467 UTR 5 XP_006718604.1
XM_006718542.3 467 UTR 5 XP_006718605.1
XM_006718543.2 467 UTR 5 XP_006718606.1
XM_006718544.3 467 UTR 5 XP_006718607.1
XM_011545001.2 467 UTR 5 XP_011543303.1
XM_011545002.2 467 Missense Mutation CGG,GGG R51G XP_011543304.1

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