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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B9D1 | NM_001243475.2 | 1 | 141 | NP_001230404.1 |
XM_017024452.1 | 1 | 112 | XP_016879941.1 | |
AK309320.1 | 1 | 130 | ||
DB067258.1 | 1 | 141 |
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 | 333 | NP_620601.1 |
NM_139033.2 | 1 | 333 | NP_620602.2 | |
XM_006721558.3 | 1 | 333 | XP_006721621.1 | |
AK295376.1 | ||||
BC007404.2 | 1 | 301 | AAH07404.1 | |
BC007992.2 | 1 | 301 | AAH07992.1 | |
DB133227.1 | 1 | 333 | ||
U29725.1 | 1 | 168 | 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 | EPN2-IT1 EPN2 MAPK7 RPS2P46 SLC47A1 B9D1 SNORA59B RNF112 EPN2-AS1 MIR1180 MFAP4 |
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | EPN2 LOC100131943 SLC47A2 B9D1 ALDH3A2 LOC388436 ALDH3A1 GRAP SLC47A1 ULK2 SNORA59B SNORD3D MAPK7 GRAPL SNORD3A SNORD3B-1 LOC102724624 EPN2-AS1 MFAP4 EPN2-IT1 LOC79999 SNORD3C AKAP10 RPS2P46 CCDC144CP RNF112 SNORD3B-2 SPECC1 MIR1180 |
nsv953845 | Chr.17:19377788 - 19387787 on Build GRCh38 | Deletion | MAPK7 B9D1 MFAP4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |