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 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ACO2 | NM_001098.2 | NP_001089.1 | ||
XM_017028812.1 | XP_016884301.1 | |||
AA724140.1 | ||||
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 Gene Details
Entrez Gene ID: | 171568 |
Gene Name: | RNA polymerase III subunit H |
Gene Aliases: |
RPC22.9, RPC8 |
Location: |
Chr.22:41525799-41544606 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
POLR3H | NM_001018050.3 | 6 | 1918 | NP_001018060.1 |
NM_001018052.3 | 5 | 1831 | NP_001018062.1 | |
NM_001282884.1 | 7 | 1646 | NP_001269813.1 | |
NM_001282885.1 | 7 | 1605 | NP_001269814.1 | |
NM_138338.4 | 7 | 1612 | NP_612211.1 | |
AB051452.1 | 6 | 1773 | ||
AK026524.1 | 7 | 1592 |
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 |
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nsv834208 | Chr.22:41363612 - 41554028 on Build GRCh38 | Loss |
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nsv524585 | Chr.22:40993505 - 41794305 on Build GRCh38 | Loss |
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esv3647799 | Chr.22:41511654 - 41543254 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Additional Information:
For this assay, SNP(s) [rs73887737] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)