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 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B9D1 | NM_001243473.2 | 6 | 1027 | NP_001230402.1 |
NM_001243475.2 | NP_001230404.1 | |||
NM_001321214.1 | 7 | 881 | NP_001308143.1 | |
NM_001321215.1 | 6 | 1120 | NP_001308144.1 | |
NM_001321217.1 | NP_001308146.1 | |||
NM_001321218.1 | NP_001308147.1 | |||
NM_001321219.1 | NP_001308148.1 | |||
NM_015681.4 | 7 | 792 | NP_056496.1 | |
XM_005256607.2 | 7 | 798 | XP_005256664.1 | |
AB030506.1 | 7 | 781 | BAA82655.1 | |
AI300844.1 | 1 | 146 | ||
AK293815.1 | 6 | 1093 | ||
AK309320.1 |
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 | LOC79999 SNORD3A LOC388436 SNORD3C EPN2 MIR1180 EPN2-IT1 EPN2-AS1 GRAPL B9D1 |
esv3582561 | Chr.17:19240831 - 19585268 on Build GRCh38 | Loss | SNORA59B EPN2 MIR1180 EPN2-IT1 EPN2-AS1 MFAP4 B9D1 MAPK7 RPS2P46 SLC47A1 RNF112 |
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | LOC79999 CCDC144CP GRAP MIR1180 EPN2-IT1 B9D1 LOC102724624 SNORD3B-2 ALDH3A1 ULK2 SNORA59B LOC100131943 SNORD3B-1 AKAP10 EPN2-AS1 ALDH3A2 MAPK7 RPS2P46 SLC47A1 SLC47A2 SPECC1 LOC388436 GRAPL RNF112 SNORD3D SNORD3A SNORD3C EPN2 MFAP4 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |