Assay Details
Target Gene Details
Entrez Gene ID: | 55349 |
Gene Name: | choline dehydrogenase |
Gene Aliases: |
- |
Location: |
Chr.3:53813130-53846393 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHDH | NM_018397.4 | 9 | 2013 | NP_060867.2 |
XM_006713250.3 | 9 | 1795 | XP_006713313.1 | |
XM_006713251.3 | 9 | 1972 | XP_006713314.1 | |
XM_006713252.3 | 8 | 1652 | XP_006713315.1 | |
XM_011533938.2 | 9 | 1829 | XP_011532240.1 | |
XM_011533939.2 | 9 | 2668 | XP_011532241.1 | |
XM_017006797.1 | 9 | 1826 | XP_016862286.1 | |
XM_017006798.1 | 9 | 1818 | XP_016862287.1 | |
XM_017006799.1 | 8 | 1649 | XP_016862288.1 | |
AJ272267.1 | 7 | 1237 | CAB75961.1 | |
AK055402.1 | 1 | 1401 | ||
AK297575.1 | 5 | 696 | ||
BC034502.1 | 9 | 1771 | AAH34502.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv954867 | Chr.3:53800874 - 53824273 on Build GRCh38 | Deletion | CACNA1D CHDH |
nsv1013783 | Chr.3:53660391 - 53900754 on Build GRCh38 | Gain | ACTR8 CACNA1D IL17RB SELK CHDH |
esv3575570 | Chr.3:53721382 - 53883305 on Build GRCh38 | Gain | ACTR8 CACNA1D IL17RB CHDH |
dgv283n21 | Chr.3:53798876 - 53848636 on Build GRCh38 | Loss | CACNA1D IL17RB CHDH |
nsv1006990 | Chr.3:53815483 - 54251185 on Build GRCh38 | Gain | ACTR8 CACNA2D3 IL17RB SELK CHDH |
dgv4746n100 | Chr.3:53786043 - 53843122 on Build GRCh38 | Gain | CACNA1D CHDH |
dgv4747n100 | Chr.3:53812714 - 53900754 on Build GRCh38 | Gain | ACTR8 CACNA1D IL17RB SELK CHDH |
nsv1003621 | Chr.3:53371619 - 54391295 on Build GRCh38 | Loss | ACTR8 CACNA2D3 CACNA1D IL17RB SELK CHDH |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |