Assay Details
Target Gene Details
Entrez Gene ID: | 2539 |
Gene Name: | glucose-6-phosphate dehydrogenase |
Gene Aliases: |
G6PD1 |
Location: |
Chr.X:154531390-154547586 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
G6PD | NM_000402.4 | NP_000393.4 | ||
NM_001042351.2 | NP_001035810.1 | |||
AK292304.1 | ||||
AK302341.1 | ||||
AL560686.3 | ||||
BC000337.2 | AAH00337.1 | |||
DC394789.1 | ||||
M21248.1 | AAA52500.1 | |||
X03674.1 | CAA27309.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv33784 | Chr.X:153962665 - 155699588 on Build GRCh38 | Gain+Loss | GAB3 F8A3 FAM223B SPRY3 PLXNA3 HCFC1 MPP1 F8 EMD IKBKG MIR1184-3 RPL10 G6PD FAM223A CTAG1B FAM50A F8A2 SLC10A3 MTCP1 FAM3A OPN1MW3 H2AFB2 LAGE3 CMC4 MIR3202-1 MIR3202-2 IRAK1 CLIC2 MIR718 H2AFB1 MIR664B FLNA DKC1 TEX28 ATP6AP1 LOC101927830 HCFC1-AS1 TAZ BRCC3 LOC105373386 MIR1184-2 TMEM187 CH17-340M24.3 OPN1MW2 TMLHE SMIM9 SNORA56 RAB39B UBL4A MIR6858 VBP1 OPN1LW GDI1 CTAG1A DNASE1L1 TKTL1 CTAG2 TMLHE-AS1 LOC107987332 SNORA36A SNORA70 MECP2 H2AFB3 F8A1 OPN1MW FUNDC2 MIR1184-1 |
nsv519042 | Chr.X:154082978 - 154601444 on Build GRCh38 | Gain | TEX28 ATP6AP1 PLXNA3 EMD IKBKG TAZ LOC105373386 RPL10 G6PD FAM223A CH17-340M24.3 OPN1MW2 FAM50A UBL4A MIR6858 OPN1LW GDI1 CTAG1A SLC10A3 DNASE1L1 TKTL1 FAM3A OPN1MW3 LOC107987332 SNORA70 LAGE3 MECP2 OPN1MW FLNA |
esv33199 | Chr.X:153065734 - 154591978 on Build GRCh38 | Gain+Loss | PLXNA3 LCA10 HCFC1 EMD IKBKG AVPR2 DUSP9 PLXNB3 RPL10 G6PD FAM223A PNCK SLC6A8 HAUS7 FAM50A FAM58A ABCD1 SLC10A3 LOC105373377 NAA10 LOC107983954 FAM3A OPN1MW3 ZNF275 LAGE3 MIR3202-1 MIR3202-2 IRAK1 TREX2 MIR718 BCAP31 ATP2B3 FLNA TEX28 ATP6AP1 LOC105373381 RENBP HCFC1-AS1 LOC105373378 BGN TAZ LOC105373386 IDH3G TMEM187 CH17-340M24.3 OPN1MW2 UBL4A MIR6858 PNMA6A OPN1LW GDI1 ZFP92 CTAG1A DNASE1L1 TKTL1 MAGEA1 ARHGAP4 LOC107987332 SNORA70 MECP2 L1CAM SRPK3 SSR4 LOC105373383 PDZD4 OPN1MW |
nsv508816 | Chr.X:154492171 - 154591783 on Build GRCh38 | Insertion | G6PD FAM223A FAM3A IKBKG CTAG1A |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |