Assay Details
Target Gene Details
Entrez Gene ID: | 656 |
Gene Name: | bone morphogenetic protein 8b |
Gene Aliases: |
BMP8, OP2 |
Location: |
Chr.1:39757182-39788861 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BMP8B | NM_001720.3 | NP_001711.2 | ||
XM_011542022.2 | XP_011540324.1 | |||
XM_011542024.2 | XP_011540326.2 | |||
XM_017002155.1 | XP_016857644.1 | |||
AY303955.1 | AAP74560.1 | |||
BC108678.1 | AAI08679.1 |
Target Gene Details
Entrez Gene ID: | 64064 |
Gene Name: | 3-oxoacid CoA-transferase 2 |
Gene Aliases: |
FKSG25, SCOTT |
Location: |
Chr.1:39769525-39771348 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
OXCT2 | NM_022120.1 | 1 | 874 | NP_071403.1 |
AB050193.2 | 1 | 800 | ||
AK093089.1 | 1 | 848 | ||
AK314586.1 | 1 | 781 | ||
AY013700.1 | 1 | 874 | AAG33922.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv945895 | Chr.1:39767760 - 39776036 on Build GRCh38 | Duplication | BMP8B OXCT2 |
esv2758933 | Chr.1:39759471 - 40194760 on Build GRCh38 | Loss | RLF MFSD2A LOC101929536 BMP8B PPIE PPT1 OXCT2 CAP1 MYCL TRIT1 |
dgv152n100 | Chr.1:39693156 - 39800418 on Build GRCh38 | Gain | LOC101929536 BMP8B PPIE OXCT2 |
nsv950654 | Chr.1:39760129 - 39775928 on Build GRCh38 | Deletion | BMP8B PPIE OXCT2 |
dgv153n100 | Chr.1:39715819 - 39848248 on Build GRCh38 | Gain | LOC101929536 BMP8B PPIE OXCT2 TRIT1 |
nsv546063 | Chr.1:39719061 - 39841226 on Build GRCh38 | Gain | LOC101929536 BMP8B PPIE OXCT2 TRIT1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |