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