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 Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
G6PD | NM_000402.4 | 13 | 2198 | NP_000393.4 |
NM_001042351.2 | 13 | 2087 | NP_001035810.1 | |
AK292304.1 | ||||
AK302341.1 | 13 | 1783 | ||
BC000337.2 | 13 | 2013 | AAH00337.1 | |
BU589629.1 | ||||
M21248.1 | 12 | 1974 | AAA52500.1 | |
X03674.1 | 13 | 2430 | 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 | LOC105373386 TMLHE-AS1 DNASE1L1 TEX28 LOC101927830 IKBKG FAM223B SNORA36A F8A1 HCFC1-AS1 MIR1184-2 CMC4 CTAG2 FAM50A F8 MIR1184-3 OPN1MW FAM223A EMD ATP6AP1 MIR664B CTAG1B OPN1LW CLIC2 HCFC1 CH17-340M24.3 FLNA MIR6858 LAGE3 RAB39B TAZ SNORA70 MIR3202-1 BRCC3 TMLHE OPN1MW2 RPL10 MIR1184-1 FUNDC2 H2AFB3 MPP1 MIR718 SMIM9 FAM3A H2AFB1 MTCP1 LOC107987332 MECP2 SPRY3 CTAG1A UBL4A G6PD PLXNA3 VBP1 SLC10A3 H2AFB2 TMEM187 DKC1 GAB3 OPN1MW3 TKTL1 IRAK1 GDI1 MIR3202-2 SNORA56 F8A3 F8A2 |
nsv519042 | Chr.X:154082978 - 154601444 on Build GRCh38 | Gain | TAZ SNORA70 LOC105373386 DNASE1L1 TEX28 IKBKG OPN1MW2 RPL10 FAM3A LOC107987332 MECP2 FAM50A CTAG1A UBL4A G6PD OPN1MW FAM223A PLXNA3 SLC10A3 EMD ATP6AP1 OPN1LW OPN1MW3 TKTL1 CH17-340M24.3 FLNA GDI1 MIR6858 LAGE3 |
esv33199 | Chr.X:153065734 - 154591978 on Build GRCh38 | Gain+Loss | LOC105373386 LOC105373381 DNASE1L1 TEX28 HAUS7 IKBKG MAGEA1 DUSP9 LOC105373378 HCFC1-AS1 L1CAM ABCD1 FAM50A LOC105373383 BCAP31 OPN1MW FAM223A EMD ATP6AP1 FAM58A OPN1LW IDH3G SLC6A8 PDZD4 HCFC1 LCA10 CH17-340M24.3 NAA10 FLNA TREX2 MIR6858 LAGE3 TAZ SNORA70 MIR3202-1 LOC107983954 OPN1MW2 RPL10 BGN RENBP ZNF275 MIR718 FAM3A SRPK3 PLXNB3 LOC107987332 MECP2 SSR4 CTAG1A PNMA6A LOC105373377 UBL4A G6PD PLXNA3 SLC10A3 ATP2B3 ZFP92 TMEM187 OPN1MW3 TKTL1 PNCK IRAK1 GDI1 MIR3202-2 AVPR2 ARHGAP4 |
nsv508816 | Chr.X:154492171 - 154591783 on Build GRCh38 | Insertion | FAM3A G6PD FAM223A IKBKG CTAG1A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |