Assay Details
Target Gene Details
Entrez Gene ID: | 8467 |
Gene Name: | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 |
Gene Aliases: |
ISWI, SNF2H, WCRF135, hISWI, hSNF2H |
Location: |
Chr.4:143513463-143557489 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMARCA5 | NM_003601.3 | NP_003592.3 | ||
AB010882.1 | BAA25173.1 | |||
AK302841.1 | ||||
AK308424.1 | ||||
AK316444.1 | ||||
BC023144.1 | AAH23144.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2759288 | Chr.4:143427140 - 144210439 on Build GRCh38 | Gain+Loss | SMARCA5-AS1 LOC101927636 GAB1 SMARCA5 GYPE GYPA GUSBP5 GYPB LOC105377458 FREM3 |
nsv830103 | Chr.4:143472245 - 143631892 on Build GRCh38 | Loss | SMARCA5-AS1 GAB1 SMARCA5 GUSBP5 FREM3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |