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 |
---|---|---|---|
nsv831943 | Chr.10:88905079 - 89106077 on Build GRCh38 | Gain | MIR4679-1 MIR4679-2 ACTA2-AS1 STAMBPL1 FAS FAS-AS1 ACTA2 |
nsv831942 | Chr.10:88804940 - 88970595 on Build GRCh38 | Gain | ANKRD22 LIPM ACTA2-AS1 STAMBPL1 FAS ACTA2 |
esv3624144 | Chr.10:88876937 - 89011636 on Build GRCh38 | Gain | ACTA2-AS1 STAMBPL1 FAS FAS-AS1 ACTA2 |
esv3624139 | Chr.10:88724980 - 89003307 on Build GRCh38 | Gain | LIPN ANKRD22 LIPM ACTA2-AS1 STAMBPL1 LIPK FAS FAS-AS1 ACTA2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |