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