Assay Details
Target Gene Details
Entrez Gene ID: | 164633 |
Gene Name: | calcium binding protein 7 |
Gene Aliases: |
CALN2 |
Location: |
Chr.22:29720090-29731833 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CABP7 | NM_182527.2 | 5 | 2310 | NP_872333.1 |
BC051805.1 | 5 | 2310 | AAH51805.1 |
Target Gene Details
Entrez Gene ID: | 55954 |
Gene Name: | zinc finger matrin-type 5 |
Gene Aliases: |
SNRNP20, U11/U12-20K, ZC3H19 |
Location: |
Chr.22:29730956-29767011 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ZMAT5 | NM_001003692.1 | 6 | 713 | NP_001003692.1 |
NM_001318129.1 | 6 | 667 | NP_001305058.1 | |
NM_019103.2 | 7 | 828 | NP_061976.1 | |
AK292671.1 | 6 | 694 | ||
AL160311.1 | 6 | 712 | CAB77284.1 | |
BC009717.1 | 6 | 678 | AAH09717.1 | |
BG285784.1 | ||||
BQ931527.1 | 6 | 641 | ||
CR456353.1 | CAG30239.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv471194 | Chr.22:29707487 - 29732391 on Build GRCh38 | Gain | ZMAT5 CABP7 |
nsv515720 | Chr.22:29685726 - 29767537 on Build GRCh38 | Gain+Loss | UQCR10 ZMAT5 CABP7 NF2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |