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 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B9D1 | NM_001243475.2 | NP_001230404.1 | ||
NM_001321218.1 | NP_001308147.1 | |||
NM_001321219.1 | NP_001308148.1 | |||
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 | SNORD3A LOC79999 SNORD3C EPN2-IT1 B9D1 EPN2 LOC388436 MIR1180 GRAPL EPN2-AS1 |
esv3582561 | Chr.17:19240831 - 19585268 on Build GRCh38 | Loss | MAPK7 MFAP4 EPN2-IT1 B9D1 EPN2 MIR1180 SLC47A1 SNORA59B RNF112 EPN2-AS1 RPS2P46 |
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | MFAP4 SLC47A1 RNF112 ALDH3A1 EPN2-AS1 RPS2P46 LOC100131943 SNORD3D GRAP B9D1 EPN2 SNORD3B-1 ULK2 MAPK7 LOC79999 LOC388436 SLC47A2 SNORD3B-2 SNORD3A SPECC1 CCDC144CP LOC102724624 SNORD3C EPN2-IT1 MIR1180 SNORA59B GRAPL AKAP10 ALDH3A2 |
More Information
Additional Information:
For this assay, SNP(s) [rs148551177,rs150017350] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |