Assay Details
Target Gene Details
Entrez Gene ID: | 27077 |
Gene Name: | B9 domain containing 1 |
Gene Aliases: |
B9, EPPB9, MKS9, MKSR1 |
Location: |
Chr.17:19335372-19378193 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B9D1 | NM_001243475.2 | 7 | 1860 | NP_001230404.1 |
NM_001321218.1 | 7 | 1757 | NP_001308147.1 | |
NM_001321219.1 | 6 | 1689 | NP_001308148.1 |
Target Gene Details
Entrez Gene ID: | 22905 |
Gene Name: | epsin 2 |
Gene Aliases: |
EHB21 |
Location: |
Chr.17:19237377-19336715 on Build GRCh38 |
Assay Gene Location: | Within Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EPN2 | NM_001102664.1 | 8 | 3694 | NP_001096134.1 |
NM_014964.4 | 11 | 4753 | NP_055779.2 | |
NM_148921.3 | 10 | 4582 | NP_683723.2 | |
AB028988.1 | 11 | 4718 | ||
AK001491.1 | 8 | 2781 | ||
BC070036.1 | 9 | 3059 | AAH70036.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833393 | Chr.17:19146950 - 19361795 on Build GRCh38 | Gain+Loss | SNORD3C SNORD3A LOC79999 GRAPL B9D1 MIR1180 EPN2-IT1 LOC388436 EPN2 EPN2-AS1 |
esv3582561 | Chr.17:19240831 - 19585268 on Build GRCh38 | Loss | SLC47A1 B9D1 MAPK7 MIR1180 EPN2-IT1 RNF112 MFAP4 EPN2 RPS2P46 SNORA59B EPN2-AS1 |
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | ALDH3A2 SPECC1 SNORD3B-1 MAPK7 EPN2-IT1 SNORD3D RNF112 LOC102724624 SNORD3B-2 SLC47A2 SNORD3C CCDC144CP ALDH3A1 GRAPL B9D1 RPS2P46 ULK2 EPN2-AS1 SNORD3A LOC100131943 SLC47A1 GRAP MFAP4 LOC388436 EPN2 SNORA59B LOC79999 MIR1180 AKAP10 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |