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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CECR1 | NM_001282225.1 | 4 | 884 | NP_001269154.1 |
NM_001282226.1 | 4 | 851 | NP_001269155.1 | |
NM_001282227.1 | 4 | 657 | NP_001269156.1 | |
NM_001282228.1 | 4 | 759 | NP_001269157.1 | |
NM_001282229.1 | 3 | 516 | NP_001269158.1 | |
XM_006724080.3 | 4 | 471 | XP_006724143.1 | |
XM_011546133.1 | 4 | 776 | XP_011544435.1 | |
AB209648.1 | 4 | 471 | BAD92885.1 | |
AF190746.1 | 3 | 820 | AAF65941.1 | |
AK292689.1 | 4 | 872 | ||
AK295174.1 | 4 | 608 | ||
AK304818.1 | 4 | 651 | ||
AK314321.1 | 4 | 675 | ||
BC051755.1 | 3 | 655 | AAH51755.1 | |
CR456417.1 | 3 | 642 | CAG30303.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv191400 | Chr.22:17202003 - 17208859 on Build GRCh38 | Deletion | CECR1 |
esv3893425 | Chr.22:17184523 - 17219394 on Build GRCh38 | Loss | CECR1 |
esv3647209 | Chr.22:17151829 - 17264992 on Build GRCh38 | Gain | CECR1 CECR5-AS1 CECR3 CECR5 |
nsv1064641 | Chr.22:16757380 - 17233805 on Build GRCh38 | Gain | LOC100996342 CECR7 GAB4 CECR1 HSFY1P1 IL17RA CECR5-AS1 CECR6 CECR5 XKR3 |
esv3647210 | Chr.22:17174250 - 17207794 on Build GRCh38 | Gain | CECR1 |
nsv509805 | Chr.22:17081417 - 17267685 on Build GRCh38 | Insertion | LOC100996342 CECR1 IL17RA CECR5-AS1 CECR3 CECR6 CECR5 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |