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 | 2037 | NP_000393.4 |
NM_001042351.2 | 13 | 1926 | NP_001035810.1 | |
AK292304.1 | 14 | 1813 | ||
AK302341.1 | 13 | 1622 | ||
BC000337.2 | 13 | 1852 | AAH00337.1 | |
M21248.1 | 12 | 1813 | AAA52500.1 | |
X03674.1 | 13 | 2269 | 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 | SLC10A3 FAM3A TKTL1 RAB39B H2AFB3 MTCP1 SMIM9 MIR3202-2 PLXNA3 MIR1184-1 H2AFB2 OPN1MW2 F8 ATP6AP1 TMLHE-AS1 GDI1 GAB3 SNORA56 MPP1 DKC1 FUNDC2 CMC4 F8A3 F8A1 OPN1MW LOC105373386 FLNA H2AFB1 OPN1LW FAM223A TMEM187 LOC107987332 LAGE3 TAZ IKBKG BRCC3 IRAK1 SPRY3 DNASE1L1 SNORA70 MECP2 MIR6858 TEX28 RPL10 TMLHE CTAG1A LOC101927830 MIR718 G6PD MIR1184-2 HCFC1-AS1 SNORA36A VBP1 MIR664B CTAG2 HCFC1 MIR1184-3 FAM223B CLIC2 EMD CTAG1B MIR3202-1 F8A2 OPN1MW3 FAM50A CH17-340M24.3 UBL4A |
nsv519042 | Chr.X:154082978 - 154601444 on Build GRCh38 | Gain | LOC107987332 LAGE3 SLC10A3 FAM3A TAZ IKBKG TKTL1 DNASE1L1 SNORA70 MECP2 MIR6858 TEX28 RPL10 CTAG1A G6PD PLXNA3 OPN1MW2 ATP6AP1 GDI1 EMD OPN1MW LOC105373386 FLNA OPN1MW3 FAM50A OPN1LW FAM223A CH17-340M24.3 UBL4A |
esv33199 | Chr.X:153065734 - 154591978 on Build GRCh38 | Gain+Loss | SRPK3 SLC10A3 FAM3A TKTL1 ABCD1 SSR4 AVPR2 MIR3202-2 PLXNA3 RENBP OPN1MW2 ZNF275 NAA10 ATP6AP1 ARHGAP4 PNCK FAM58A GDI1 BCAP31 OPN1MW LOC105373386 FLNA LOC105373383 LOC105373381 OPN1LW FAM223A TMEM187 IDH3G LOC107987332 HAUS7 LAGE3 L1CAM LOC107983954 TAZ IKBKG ATP2B3 IRAK1 DNASE1L1 SNORA70 MECP2 MIR6858 TEX28 ZFP92 RPL10 DUSP9 TREX2 CTAG1A MIR718 G6PD HCFC1-AS1 PNMA6A HCFC1 LOC105373378 SLC6A8 LOC105373377 EMD BGN LCA10 PLXNB3 MAGEA1 PDZD4 MIR3202-1 OPN1MW3 FAM50A CH17-340M24.3 UBL4A |
nsv508816 | Chr.X:154492171 - 154591783 on Build GRCh38 | Insertion | CTAG1A FAM3A IKBKG G6PD FAM223A |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |