Assay Details
Target Gene Details
Entrez Gene ID: | 50 |
Gene Name: | aconitase 2 |
Gene Aliases: |
ACONM, HEL-S-284, ICRD, OCA8, OPA9 |
Location: |
Chr.22:41469125-41528989 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ACO2 | NM_001098.2 | NP_001089.1 | ||
XM_017028812.1 | XP_016884301.1 | |||
AK293562.1 | ||||
AK296260.1 | ||||
AK297213.1 | ||||
AK301321.1 | ||||
AK302691.1 | ||||
AK314845.1 | ||||
BC014092.2 | AAH14092.1 | |||
BC026196.2 | AAH26196.1 | |||
CR456365.1 | CAG30251.1 | |||
CR536568.1 | CAG38805.1 | |||
GQ472196.1 | ||||
U80040.1 | AAB38416.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv516925 | Chr.22:41252498 - 41585953 on Build GRCh38 | Loss | POLR3H PHF5A CSDC2 TOB2 PMM1 MIR6889 RANGAP1 ACO2 ZC3H7B LOC105373044 TEF LOC100996598 |
nsv834208 | Chr.22:41363612 - 41554028 on Build GRCh38 | Loss | POLR3H PHF5A TOB2 ACO2 LOC105373044 TEF LOC100996598 |
nsv524585 | Chr.22:40993505 - 41794305 on Build GRCh38 | Loss | DESI1 MIR1281 POLR3H PHF5A CSDC2 PMM1 C22orf46 XRCC6 L3MBTL2 EP300 TEF LOC100996598 CHADL SNU13 TOB2 MIR6889 RANGAP1 ACO2 ZC3H7B LOC105373044 MEI1 SNORD140 EP300-AS1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |