Assay Details
Target Gene Details
Entrez Gene ID: | 51816 |
Gene Name: | cat eye syndrome chromosome region, candidate 1 |
Gene Aliases: |
ADA2, ADGF, IDGFL, PAN, SNEDS |
Location: |
Chr.22:17178790-17221854 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CECR1 | NM_001282225.1 | 10 | 4237 | NP_001269154.1 |
NM_001282226.1 | 10 | 4204 | NP_001269155.1 | |
NM_001282227.1 | 10 | 4010 | NP_001269156.1 | |
NM_001282228.1 | 10 | 4112 | NP_001269157.1 | |
NM_001282229.1 | 9 | 3869 | NP_001269158.1 | |
NM_177405.2 | 7 | 3443 | NP_803124.1 | |
CD369524.1 | 1 | 286 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3647209 | Chr.22:17151829 - 17264992 on Build GRCh38 | Gain | CECR1 CECR3 CECR5 CECR5-AS1 |
nsv1064641 | Chr.22:16757380 - 17233805 on Build GRCh38 | Gain | CECR7 CECR1 GAB4 LOC100996342 HSFY1P1 IL17RA XKR3 CECR6 CECR5 CECR5-AS1 |
esv3647210 | Chr.22:17174250 - 17207794 on Build GRCh38 | Gain | CECR1 |
nsv509805 | Chr.22:17081417 - 17267685 on Build GRCh38 | Insertion | CECR1 LOC100996342 IL17RA CECR3 CECR6 CECR5 CECR5-AS1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |