Assay Details
Target Gene Details
Entrez Gene ID: | 29095 |
Gene Name: | ORMDL sphingolipid biosynthesis regulator 2 |
Gene Aliases: |
HSPC160, MST095, MSTP095, adoplin-2 |
Location: |
Chr.12:55818022-55821175 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ORMDL2 | NM_014182.4 | 2 | 180 | NP_054901.1 |
AB064961.1 | 2 | 134 | BAC11712.1 | |
AF161509.1 | 2 | 141 | AAF29124.1 | |
AF173375.1 | 2 | 150 | AAQ13618.1 | |
AF395705.1 | 1 | 95 | AAM43504.1 | |
AF395706.1 | 1 | 100 | AAM43505.1 | |
AF395707.1 | 2 | 277 | AAM43506.1 | |
AK223180.1 | 2 | 121 | BAD96900.1 | |
AK314046.1 | 2 | 161 | ||
BC012543.2 | 1 | 90 | AAH12543.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832423 | Chr.12:55687038 - 55859914 on Build GRCh38 | Gain | BLOC1S1-RDH5 GDF11 RDH5 BLOC1S1 SARNP MMP19 CD63 TMEM198B ORMDL2 DNAJC14 ITGA7 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |