Product Details
- SNP ID
-
rs74520962
- Assay Type
- Functionally Tested
- NCBI dbSNP Submissions
-
5
- Location
-
Chr.1:115700218 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACTTTTAGACAGCTCAGAAGGCACT[C/T]TGGGATTTTTTTTTTTTTCAGTGCC
- Phenotype
-
MIM: 114251
MIM: 610132
- Polymorphism
- C/T, Transition Substitution
- Allele Nomenclature
-
- Literature Links
-
CASQ2
PubMed Links
- Additional Information
-
For this assay, SNP(s) [rs11347859] 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
- CASQ2
- Gene Name
- calsequestrin 2
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001232.3 |
2487 |
UTR 3 |
|
|
NP_001223.2 |
- Gene
- VANGL1
- Gene Name
- VANGL planar cell polarity protein 1
There are no transcripts associated with this gene.
View Full Product Details