Assay Details
Target Gene Details
Entrez Gene ID: | 22907 |
Gene Name: | DEAH-box helicase 30 |
Gene Aliases: |
DDX30, RETCOR |
Location: |
Chr.3:47802909-47850196 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DHX30 | NM_014966.3 | NP_055781.2 | ||
NM_138615.2 | NP_619520.1 | |||
NR_075079.1 | ||||
XM_006713033.1 | XP_006713096.1 | |||
XM_011533490.1 | XP_011531792.1 | |||
XM_011533491.1 | XP_011531793.1 | |||
XM_011533492.2 | XP_011531794.1 | |||
XM_011533493.1 | XP_011531795.1 | |||
XM_011533495.1 | XP_011531797.1 | |||
XM_011533496.1 | XP_011531798.1 | |||
XM_011533497.2 | XP_011531799.1 | |||
XM_017005914.1 | XP_016861403.1 | |||
XM_017005915.1 | XP_016861404.1 | |||
XM_017005916.1 | XP_016861405.1 | |||
XM_017005917.1 | XP_016861406.1 | |||
AB020697.1 | ||||
AK096791.1 | ||||
AK291266.1 | ||||
BC015029.1 | AAH15029.1 | |||
BC020126.1 | AAH20126.1 | |||
BC038417.1 | AAH38417.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv834679 | Chr.3:47707985 - 47882516 on Build GRCh38 | Loss | SMARCC1 DHX30 MIR1226 MAP4 |
nsv508916 | Chr.3:47753956 - 47883831 on Build GRCh38 | Insertion | SMARCC1 DHX30 MIR1226 MAP4 |
nsv3808 | Chr.3:47762613 - 47805200 on Build GRCh38 | Insertion | SMARCC1 DHX30 |
nsv231 | Chr.3:47775571 - 47804097 on Build GRCh38 | Insertion | SMARCC1 DHX30 |
nsv10270 | Chr.3:47781116 - 47804088 on Build GRCh38 | Gain | SMARCC1 DHX30 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |