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: | Within Intron 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 | LOC100996598 RANGAP1 CSDC2 TEF ACO2 LOC105373044 ZC3H7B TOB2 POLR3H PHF5A MIR6889 PMM1 |
nsv834208 | Chr.22:41363612 - 41554028 on Build GRCh38 | Loss | LOC100996598 TEF ACO2 LOC105373044 TOB2 POLR3H PHF5A |
nsv524585 | Chr.22:40993505 - 41794305 on Build GRCh38 | Loss | SNORD140 RANGAP1 CSDC2 TEF LOC105373044 ZC3H7B EP300 TOB2 MEI1 MIR6889 PMM1 XRCC6 L3MBTL2 LOC100996598 EP300-AS1 SNU13 MIR1281 C22orf46 DESI1 ACO2 POLR3H PHF5A CHADL |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |