Assay Details
Target Gene Details
Entrez Gene ID: | 823 |
Gene Name: | calpain 1 |
Gene Aliases: |
CANP, CANP1, CANPL1, SPG76, muCANP, muCL |
Location: |
Chr.11:65181215-65212006 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CAPN1 | NM_001198868.1 | 2 | 433 | NP_001185797.1 |
NM_001198869.1 | 2 | 402 | NP_001185798.1 | |
NM_005186.3 | 2 | 418 | NP_005177.2 | |
NR_040008.1 | 2 | 418 | ||
XM_006718698.1 | 2 | 333 | XP_006718761.1 | |
XM_011545292.1 | 2 | 344 | XP_011543594.1 | |
AK301538.1 | 2 | 311 | ||
AK311001.1 | ||||
AK315556.1 | 2 | 347 | ||
AY550975.1 | 1 | 241 | AAT52221.1 | |
BC008751.2 | 2 | 369 | AAH08751.1 | |
BC017200.2 | 2 | 255 | AAH17200.1 | |
BC075862.1 | 2 | 336 | AAH75862.1 | |
BE018156.1 | 2 | 427 | ||
DA788342.1 | 2 | 433 | ||
DC365116.1 | 2 | 320 | ||
DC372552.1 | 2 | 493 | ||
X04366.1 | 2 | 379 | CAA27881.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv509418 | Chr.11:65164531 - 65202781 on Build GRCh38 | Insertion | CAPN1 SPDYC |
nsv526181 | Chr.11:64870569 - 65489858 on Build GRCh38 | Gain | MIR6749 MIR6751 MAJIN POLA2 CDC42EP2 NAALADL1 SYVN1 EHD1 SPDYC PPP2R5B FAU MIR194-2HG MIR192 ARL2-SNX15 FRMD8 CAPN1 MRPL49 MIR6750 TM7SF2 ZFPL1 MIR612 CDCA5 SLC22A20 BATF2 ARL2 SAC3D1 DPF2 TIGD3 ZNHIT2 TMEM262 NEAT1 MIR194-2 GPHA2 ATG2A LOC101927789 SLC25A45 SNX15 MIR6879 VPS51 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |