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: | Overlaps Intron 1 - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B9D1 | NM_001243475.2 | NP_001230404.1 | ||
XM_017024452.1 | XP_016879941.1 | |||
AK309320.1 | ||||
DB067258.1 |
Target Gene Details
Entrez Gene ID: | 5598 |
Gene Name: | mitogen-activated protein kinase 7 |
Gene Aliases: |
BMK1, ERK4, ERK5, PRKM7 |
Location: |
Chr.17:19377721-19383544 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MAPK7 | NM_139032.2 | 1 | 182 | NP_620601.1 |
NM_139033.2 | 1 | 182 | NP_620602.2 | |
XM_006721558.3 | 1 | 182 | XP_006721621.1 | |
BC007404.2 | 1 | 150 | AAH07404.1 | |
BC007992.2 | 1 | 150 | AAH07992.1 | |
DB133227.1 | 1 | 182 | ||
U29725.1 | AAA82931.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3582561 | Chr.17:19240831 - 19585268 on Build GRCh38 | Loss | B9D1 MAPK7 RNF112 RPS2P46 EPN2 MFAP4 EPN2-AS1 EPN2-IT1 MIR1180 SLC47A1 SNORA59B |
nsv953845 | Chr.17:19377788 - 19387787 on Build GRCh38 | Deletion | B9D1 MAPK7 MFAP4 |
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | LOC100131943 RPS2P46 EPN2-AS1 LOC79999 ALDH3A2 SNORD3A RNF112 AKAP10 SLC47A2 SNORD3C MAPK7 ULK2 ALDH3A1 SNORD3B-2 EPN2 MFAP4 GRAPL LOC102724624 EPN2-IT1 SNORD3B-1 SLC47A1 B9D1 GRAP SNORD3D LOC388436 SPECC1 MIR1180 CCDC144CP SNORA59B |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |