Product Details

SNP ID
rs185380978
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:9547896 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCTGTCACGGTCCATCTGAAGAG[C/T]CATGATGGTCTGCTCCACAGCCTCC
Phenotype
MIM: 604908 MIM: 605801
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PPP4R1 PubMed Links

Gene Details

Gene
PPP4R1
Gene Name
protein phosphatase 4 regulatory subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042388.2 2859 Missense Mutation ACT,GCT T916A NP_001035847.1
NM_005134.3 2859 Missense Mutation ACT,GCT T899A NP_005125.1
XM_011525775.2 2859 Missense Mutation ACT,GCT T968A XP_011524077.1
XM_011525776.1 2859 Missense Mutation ACT,GCT T951A XP_011524078.1
XM_011525779.2 2859 Missense Mutation ACT,GCT T857A XP_011524081.1
XM_017026105.1 2859 Missense Mutation ACT,GCT T915A XP_016881594.1
XM_017026106.1 2859 Missense Mutation ACT,GCT T827A XP_016881595.1
XM_017026107.1 2859 Missense Mutation ACT,GCT T827A XP_016881596.1
Gene
RALBP1
Gene Name
ralA binding protein 1
There are no transcripts associated with this gene.

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