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 8 |
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 | |||
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 | LOC101927830 FAM50A TMLHE SNORA56 SNORA36A GAB3 ATP6AP1 HCFC1-AS1 MIR664B OPN1MW3 MIR3202-1 BRCC3 IKBKG MIR1184-2 H2AFB1 MECP2 MIR1184-1 TKTL1 LAGE3 TMLHE-AS1 SLC10A3 DKC1 LOC107987332 SMIM9 H2AFB2 FUNDC2 FAM223B IRAK1 EMD GDI1 MIR6858 MPP1 MTCP1 VBP1 TAZ PLXNA3 DNASE1L1 SNORA70 LOC105373386 OPN1MW F8A3 OPN1LW G6PD FAM223A MIR1184-3 H2AFB3 MIR3202-2 RAB39B CMC4 F8A1 CH17-340M24.3 FLNA CTAG1B MIR718 SPRY3 RPL10 CTAG1A TEX28 TMEM187 UBL4A F8A2 FAM3A CLIC2 F8 OPN1MW2 CTAG2 HCFC1 |
nsv519042 | Chr.X:154082978 - 154601444 on Build GRCh38 | Gain | FAM50A OPN1MW ATP6AP1 OPN1LW G6PD FAM223A OPN1MW3 IKBKG MECP2 TKTL1 LAGE3 SLC10A3 LOC107987332 EMD CH17-340M24.3 FLNA GDI1 MIR6858 RPL10 CTAG1A TEX28 UBL4A TAZ FAM3A PLXNA3 DNASE1L1 SNORA70 LOC105373386 OPN1MW2 |
esv33199 | Chr.X:153065734 - 154591978 on Build GRCh38 | Gain+Loss | PNMA6A FAM50A ATP6AP1 ARHGAP4 HCFC1-AS1 FAM58A OPN1MW3 SSR4 DUSP9 MIR3202-1 IKBKG MECP2 TKTL1 LAGE3 SLC10A3 LOC107987332 PNCK IRAK1 ZNF275 AVPR2 EMD LOC105373377 GDI1 MIR6858 PLXNB3 LCA10 BGN LOC105373378 RENBP TAZ PLXNA3 DNASE1L1 SNORA70 ATP2B3 LOC105373386 LOC105373383 OPN1MW NAA10 OPN1LW G6PD FAM223A SLC6A8 IDH3G LOC107983954 MIR3202-2 SRPK3 CH17-340M24.3 BCAP31 FLNA LOC105373381 ZFP92 MIR718 PDZD4 TREX2 MAGEA1 RPL10 CTAG1A ABCD1 TEX28 HAUS7 TMEM187 UBL4A FAM3A OPN1MW2 L1CAM HCFC1 |
nsv508816 | Chr.X:154492171 - 154591783 on Build GRCh38 | Insertion | IKBKG FAM3A G6PD FAM223A CTAG1A |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |