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 Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B9D1 | NM_001243473.2 | NP_001230402.1 | ||
NM_001243475.2 | NP_001230404.1 | |||
NM_001321214.1 | NP_001308143.1 | |||
NM_001321215.1 | NP_001308144.1 | |||
NM_001321217.1 | NP_001308146.1 | |||
NM_001321218.1 | NP_001308147.1 | |||
NM_001321219.1 | NP_001308148.1 | |||
NM_015681.4 | NP_056496.1 | |||
XM_005256607.2 | XP_005256664.1 | |||
AB030506.1 | BAA82655.1 | |||
AI300844.1 | ||||
AK293815.1 | ||||
AK297782.1 | ||||
AK309320.1 | ||||
BI833202.1 |
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 | EPN2-AS1 MIR1180 LOC79999 B9D1 EPN2 SNORD3A GRAPL EPN2-IT1 LOC388436 SNORD3C |
esv3582561 | Chr.17:19240831 - 19585268 on Build GRCh38 | Loss | EPN2-AS1 MIR1180 B9D1 SNORA59B EPN2 RPS2P46 MAPK7 MFAP4 EPN2-IT1 RNF112 SLC47A1 |
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | EPN2-AS1 LOC100131943 AKAP10 SPECC1 ALDH3A1 MIR1180 LOC79999 SLC47A2 LOC102724624 SNORD3D MAPK7 EPN2-IT1 SNORD3C CCDC144CP RNF112 SNORD3B-2 B9D1 EPN2 GRAPL LOC388436 SNORA59B SNORD3B-1 SNORD3A RPS2P46 GRAP MFAP4 ULK2 ALDH3A2 SLC47A1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |