Assay Details
Target Gene Details
Entrez Gene ID: | 825 |
Gene Name: | calpain 3 |
Gene Aliases: |
CANP3, CANPL3, LGMD2, LGMD2A, nCL-1, p94 |
Location: |
Chr.15:42359500-42412317 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CAPN3 | NM_000070.2 | NP_000061.1 | ||
NM_024344.1 | NP_077320.1 | |||
NM_173087.1 | NP_775110.1 | |||
AF127764.1 | AAD28253.1 | |||
AF127765.3 | AAD28254.3 | |||
AK308103.1 | ||||
BC146649.1 | ||||
BC146672.1 | ||||
EU791850.1 | ||||
EU791851.1 | ||||
X85030.1 | CAA59403.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832987 | Chr.15:42335249 - 42500150 on Build GRCh38 | Gain | GANC ZNF106 CAPN3 SNAP23 |
nsv832986 | Chr.15:42295627 - 42461466 on Build GRCh38 | Loss | GANC ZNF106 CAPN3 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |