Assay Details
Target Gene Details
Entrez Gene ID: | 3708 |
Gene Name: | inositol 1,4,5-trisphosphate receptor type 1 |
Gene Aliases: |
ACV, CLA4, INSP3R1, IP3R, IP3R1, PPP1R94, SCA15, SCA16, SCA29 |
Location: |
Chr.3:4493348-4847840 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 3 - Intron 3 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2422450 | Chr.3:4467187 - 4614541 on Build GRCh38 | Deletion | ITPR1-AS1 SUMF1 ITPR1 |
nsv834605 | Chr.3:4508590 - 4643041 on Build GRCh38 | Gain | ITPR1 |
More Information
Additional Information:
For this assay, SNP(s) [rs200534989] are located under a primer or 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.
Set Membership: |
Intragenic Non-exonic DGV Variation |