Assay Details
Target Gene Details
Entrez Gene ID: | 389692 |
Gene Name: | MAF bZIP transcription factor A |
Gene Aliases: |
RIPE3b1, hMafA |
Location: |
Chr.8:143428060-143430432 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
MAFA | NM_201589.3 | 1 | 167 | NP_963883.2 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2668424 | Chr.8:143428175 - 143431522 on Build GRCh38 | Deletion | MAFA |
nsv1144240 | Chr.8:143429430 - 143430430 on Build GRCh38 | Deletion | MAFA |
nsv470247 | Chr.8:143283403 - 143615483 on Build GRCh38 | Loss | EEF1D TSTA3 MAFA-AS1 ZNF696 NAPRT PYCRL MROH6 RHPN1 RHPN1-AS1 TIGD5 TOP1MT MAFA GSDMD ZC3H3 |
nsv612768 | Chr.8:143426598 - 143440218 on Build GRCh38 | Loss | MAFA ZC3H3 |
esv3619107 | Chr.8:143340435 - 143431612 on Build GRCh38 | Gain | RHPN1 RHPN1-AS1 MAFA-AS1 TOP1MT MAFA |
nsv950012 | Chr.8:143358831 - 143442430 on Build GRCh38 | Deletion | RHPN1 RHPN1-AS1 MAFA-AS1 TOP1MT MAFA ZC3H3 |
nsv824765 | Chr.8:143428058 - 143432127 on Build GRCh38 | Gain | MAFA |
nsv612769 | Chr.8:143429115 - 143459926 on Build GRCh38 | Loss | MAFA ZC3H3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |