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: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ITPR1 | NM_001099952.2 | 1 | 180 | NP_001093422.2 |
NM_001168272.1 | 1 | 180 | NP_001161744.1 | |
NM_002222.5 | 1 | 180 | NP_002213.5 | |
XM_005265109.2 | 1 | 180 | XP_005265166.1 | |
XM_005265110.2 | 1 | 180 | XP_005265167.1 | |
XM_006713131.2 | 1 | 180 | XP_006713194.1 | |
XM_011533681.1 | 1 | 180 | XP_011531983.1 | |
XM_011533682.2 | 1 | 111 | XP_011531984.1 | |
XM_011533683.2 | 1 | 180 | XP_011531985.1 | |
XM_011533684.1 | 1 | 180 | XP_011531986.1 | |
XM_011533685.1 | 1 | 180 | XP_011531987.1 | |
XM_011533686.1 | 1 | 180 | XP_011531988.1 | |
XM_011533687.1 | 1 | 180 | XP_011531989.1 | |
XM_011533688.1 | 1 | 180 | XP_011531990.1 | |
XM_011533690.1 | 1 | 180 | XP_011531992.1 | |
XM_011533691.1 | 1 | 180 | XP_011531993.1 | |
XM_011533692.2 | 1 | 180 | XP_011531994.1 | |
XM_017006357.1 | 1 | 180 | XP_016861846.1 | |
XM_017006358.1 | 1 | 180 | XP_016861847.1 | |
AK311008.1 | 1 | 178 | ||
BC144563.1 | ||||
D26070.1 | 1 | 86 | BAA05065.1 | |
DA060305.1 | 1 | 180 | ||
DB260851.1 | 1 | 178 | ||
L38019.2 | 1 | 77 | AAB04947.2 |
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 | SUMF1 ITPR1-AS1 ITPR1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |