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 Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BMP8B | NM_001720.3 | 7 | 2024 | NP_001711.2 |
XM_011542024.2 | 8 | 1817 | XP_011540326.2 | |
AB075489.1 | 1 | 64 | ||
AY303955.1 | 7 | 2024 | AAP74560.1 |
Target Gene Details
Entrez Gene ID: | 10450 |
Gene Name: | peptidylprolyl isomerase E |
Gene Aliases: |
CYP-33, CYP33 |
Location: |
Chr.1:39738845-39765698 on Build GRCh38 |
Assay Gene Location: | Within Intron 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PPIE | NM_001195007.1 | NP_001181936.1 | ||
NM_001319293.1 | NP_001306222.1 | |||
NM_203456.2 | NP_982281.1 | |||
XM_006710289.2 | XP_006710352.1 | |||
XM_011540501.1 | XP_011538803.1 | |||
XM_017000051.1 | XP_016855540.1 | |||
AF042386.1 | AAC00007.1 | |||
AF104013.1 | AAD19907.1 | |||
BU689929.1 | ||||
CA445146.1 | ||||
CT002466.1 | ||||
DQ160195.1 | AAZ93379.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2758933 | Chr.1:39759471 - 40194760 on Build GRCh38 | Loss | MFSD2A MYCL OXCT2 TRIT1 RLF LOC101929536 CAP1 BMP8B PPIE PPT1 |
dgv152n100 | Chr.1:39693156 - 39800418 on Build GRCh38 | Gain | OXCT2 LOC101929536 BMP8B PPIE |
dgv153n100 | Chr.1:39715819 - 39848248 on Build GRCh38 | Gain | OXCT2 TRIT1 LOC101929536 BMP8B PPIE |
nsv546063 | Chr.1:39719061 - 39841226 on Build GRCh38 | Gain | OXCT2 TRIT1 LOC101929536 BMP8B PPIE |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |