Assay Details
Target Gene Details
Entrez Gene ID: | 59 |
Gene Name: | actin, alpha 2, smooth muscle, aorta |
Gene Aliases: |
AAT6, ACTSA, MYMY5 |
Location: |
Chr.10:88935074-88991397 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ACTA2 | NM_001141945.2 | NP_001135417.1 | ||
NM_001320855.1 | NP_001307784.1 | |||
AY692464.1 | ||||
BP248338.1 | ||||
DC304647.1 | ||||
DC354672.1 | ||||
DC359878.1 | ||||
DC385559.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3624145 | Chr.10:88958203 - 88963844 on Build GRCh38 | Loss | ACTA2 |
nsv831943 | Chr.10:88905079 - 89106077 on Build GRCh38 | Gain | FAS MIR4679-1 STAMBPL1 FAS-AS1 ACTA2-AS1 ACTA2 MIR4679-2 |
nsv831942 | Chr.10:88804940 - 88970595 on Build GRCh38 | Gain | LIPM FAS STAMBPL1 ANKRD22 ACTA2-AS1 ACTA2 |
esv3624144 | Chr.10:88876937 - 89011636 on Build GRCh38 | Gain | FAS STAMBPL1 FAS-AS1 ACTA2-AS1 ACTA2 |
esv3624139 | Chr.10:88724980 - 89003307 on Build GRCh38 | Gain | LIPM LIPN FAS LIPK STAMBPL1 ANKRD22 FAS-AS1 ACTA2-AS1 ACTA2 |
More Information
Additional Information:
For this assay, SNP(s) [rs149199009] 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: |
Intragenic Intronic Non-exonic DGV Variation |