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 3 |
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 | |||
M27940.1 | AAA52504.1 | |||
S58359.1 | AAB26169.1 | |||
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 | FAM223A LAGE3 CTAG2 MPP1 LOC101927830 RPL10 CTAG1A EMD LOC105373386 MIR1184-1 SNORA36A PLXNA3 CLIC2 DNASE1L1 MECP2 SMIM9 MIR664B MIR3202-1 H2AFB1 FAM223B OPN1MW UBL4A MIR718 F8A1 F8A2 SPRY3 F8 TMLHE BRCC3 OPN1MW3 MIR1184-3 DKC1 TMLHE-AS1 TAZ GAB3 IRAK1 VBP1 FAM3A TKTL1 ATP6AP1 OPN1MW2 HCFC1 TEX28 RAB39B SLC10A3 MTCP1 FUNDC2 LOC107987332 GDI1 CTAG1B H2AFB3 FAM50A MIR6858 CMC4 CH17-340M24.3 H2AFB2 SNORA70 IKBKG OPN1LW FLNA G6PD MIR3202-2 HCFC1-AS1 TMEM187 SNORA56 MIR1184-2 F8A3 |
nsv519042 | Chr.X:154082978 - 154601444 on Build GRCh38 | Gain | OPN1MW3 FAM223A LAGE3 TAZ FAM3A TKTL1 ATP6AP1 RPL10 OPN1MW2 TEX28 CTAG1A SLC10A3 EMD LOC105373386 LOC107987332 GDI1 PLXNA3 FAM50A DNASE1L1 MECP2 MIR6858 CH17-340M24.3 SNORA70 IKBKG OPN1LW OPN1MW UBL4A FLNA G6PD |
esv33199 | Chr.X:153065734 - 154591978 on Build GRCh38 | Gain+Loss | SRPK3 IDH3G FAM223A AVPR2 LAGE3 ZFP92 LOC105373377 RPL10 CTAG1A LOC105373383 EMD LOC105373386 RENBP PLXNA3 DNASE1L1 MECP2 ABCD1 MIR3202-1 TREX2 PLXNB3 LOC105373381 DUSP9 OPN1MW UBL4A MIR718 OPN1MW3 LOC107983954 TAZ SLC6A8 IRAK1 FAM3A TKTL1 BCAP31 ATP6AP1 OPN1MW2 HCFC1 TEX28 SSR4 SLC10A3 FAM58A ARHGAP4 LOC105373378 LOC107987332 GDI1 PNCK FAM50A BGN MIR6858 CH17-340M24.3 PDZD4 ZNF275 LCA10 SNORA70 ATP2B3 IKBKG NAA10 OPN1LW PNMA6A HAUS7 L1CAM FLNA G6PD MIR3202-2 HCFC1-AS1 TMEM187 MAGEA1 |
nsv508816 | Chr.X:154492171 - 154591783 on Build GRCh38 | Insertion | CTAG1A FAM223A G6PD FAM3A IKBKG |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |