Product Details
- SNP ID
-
rs145108456
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.5:34915851 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCTAAGCGGCACGCCACAGCAGAGG[A/C]GGTGGAGGAAGAAGAGAGGGACCGG
- Phenotype
-
MIM: 603153
- Polymorphism
- A/C, Transversion Substitution
- Allele Nomenclature
-
- Literature Links
-
BRIX1
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs2069464] are located under a primer 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
- BRIX1
- Gene Name
- BRX1, biogenesis of ribosomes
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_018321.3 |
137 |
Missense Mutation |
GAG,GCG |
E38A |
NP_060791.3 |
- Gene
- RAD1
- Gene Name
- RAD1 checkpoint DNA exonuclease
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_002853.3 |
137 |
Intron |
|
|
NP_002844.1 |
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