Product Details

SNP ID
rs143121868
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:3586546 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAAGTGGACATGCAGAAGCTCCTG[C/G]GGGGTCAGATAGGCCTGGAGGACTT
Phenotype
MIM: 608792 MIM: 605535 MIM: 188070
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
GIPC3 PubMed Links
Additional Information
For this assay, SNP(s) [rs8113232] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
GIPC3
Gene Name
GIPC PDZ domain containing family member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_133261.2 344 Missense Mutation CGG,GGG R93G NP_573568.1
XM_005259492.3 344 Missense Mutation CGG,GGG R93G XP_005259549.1
Gene
HMG20B
Gene Name
high mobility group 20B
There are no transcripts associated with this gene.

Gene
TBXA2R
Gene Name
thromboxane A2 receptor
There are no transcripts associated with this gene.

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