Assay Details
Target Gene Details
Entrez Gene ID: | 100288072 |
Gene Name: | short chain dehydrogenase/reductase family 42E, member 2 |
Gene Aliases: |
- |
Location: |
Chr.16:22162531-22190444 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SDR42E2 | XM_017023977.1 | XP_016879466.1 | ||
XM_017023978.1 | XP_016879467.1 | |||
XM_017023979.1 | XP_016879468.1 | |||
XM_017023980.1 | XP_016879469.1 | |||
XM_017023981.1 | XP_016879470.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2674718 | Chr.16:22179637 - 22187921 on Build GRCh38 | Deletion | SDR42E2 |
nsv469818 | Chr.16:22112125 - 22262126 on Build GRCh38 | Loss | EEF2K SDR42E2 VWA3A |
nsv469628 | Chr.16:22055049 - 22205066 on Build GRCh38 | Gain | SDR42E2 C16orf52 VWA3A |
esv3638195 | Chr.16:22082786 - 22273655 on Build GRCh38 | Gain | EEF2K SDR42E2 C16orf52 VWA3A |
esv3638201 | Chr.16:22179730 - 22188051 on Build GRCh38 | Loss | SDR42E2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |