Product Details
- SNP ID
-
rs150887497
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.16:21962817 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACCACAGCACCAGAATTTCGTCGTT[C/G]GGAAGTAGCTGACCTTCAGCCTCAG
- Phenotype
-
MIM: 191329
- Polymorphism
- C/G, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
PDZD9
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs2228473] 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
- PDZD9
- Gene Name
- PDZ domain containing 9
- Gene
- UQCRC2
- Gene Name
- ubiquinol-cytochrome c reductase core protein II
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_003366.3 |
806 |
Missense Mutation |
TCG,TGG |
S149W |
NP_003357.2 |
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