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: | Overlaps Intron 1 - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
G6PD | NM_001042351.2 | NP_001035810.1 | ||
AL560686.3 | ||||
DC394789.1 |
Target Gene Details
Entrez Gene ID: | 8517 |
Gene Name: | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma |
Gene Aliases: |
AMCBX1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG, IMD33, IP, IP1, IP2, IPD2, NEMO, ZC2HC9 |
Location: |
Chr.X:154542240-154565046 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
IKBKG | NM_001099856.4 | NP_001093326.2 | ||
NM_001099857.2 | 1 | 178 | NP_001093327.1 | |
NM_001145255.2 | 1 | 178 | NP_001138727.1 | |
NM_001321396.1 | NP_001308325.1 | |||
NM_001321397.1 | 1 | 178 | NP_001308326.1 | |
AF074382.1 | AAC36330.1 | |||
AK308366.1 | 1 | 178 | ||
AY114157.1 | AAM44073.1 | |||
BC012114.1 | AAH12114.1 | |||
BM473416.1 | ||||
DC410130.1 | 1 | 178 |
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 CLIC2 SNORA70 MIR718 F8 OPN1MW3 MTCP1 LAGE3 TMEM187 MIR3202-1 OPN1MW MIR1184-2 ATP6AP1 LOC101927830 CTAG1A SMIM9 MIR3202-2 VBP1 IKBKG TKTL1 TEX28 MIR664B TMLHE-AS1 SLC10A3 MPP1 HCFC1 CMC4 TAZ PLXNA3 MIR1184-1 F8A1 GAB3 OPN1LW FLNA DKC1 F8A2 F8A3 H2AFB3 CTAG1B SPRY3 IRAK1 DNASE1L1 UBL4A CTAG2 FAM3A RPL10 HCFC1-AS1 FAM223B MIR6858 G6PD LOC105373386 OPN1MW2 H2AFB1 LOC107987332 MECP2 RAB39B BRCC3 GDI1 TMLHE FAM50A EMD SNORA56 FUNDC2 CH17-340M24.3 H2AFB2 MIR1184-3 SNORA36A |
nsv519042 | Chr.X:154082978 - 154601444 on Build GRCh38 | Gain | FAM223A SNORA70 DNASE1L1 OPN1MW3 UBL4A LAGE3 FAM3A OPN1MW RPL10 ATP6AP1 MIR6858 G6PD LOC105373386 CTAG1A OPN1MW2 IKBKG TKTL1 LOC107987332 TEX28 MECP2 SLC10A3 TAZ GDI1 PLXNA3 FAM50A OPN1LW EMD FLNA CH17-340M24.3 |
esv33199 | Chr.X:153065734 - 154591978 on Build GRCh38 | Gain+Loss | FAM223A LOC105373381 SNORA70 MIR718 SSR4 OPN1MW3 LAGE3 TMEM187 ATP2B3 MIR3202-1 ABCD1 OPN1MW ZFP92 ATP6AP1 LOC105373383 CTAG1A MIR3202-2 IDH3G BCAP31 IKBKG TKTL1 TEX28 PNMA6A ARHGAP4 SLC10A3 HCFC1 TAZ LOC107983954 PLXNA3 PDZD4 HAUS7 MAGEA1 L1CAM OPN1LW BGN FLNA NAA10 AVPR2 RENBP LOC105373378 IRAK1 DNASE1L1 UBL4A FAM3A RPL10 HCFC1-AS1 MIR6858 G6PD LOC105373386 FAM58A DUSP9 LCA10 OPN1MW2 ZNF275 PLXNB3 LOC107987332 MECP2 GDI1 SLC6A8 LOC105373377 TREX2 PNCK SRPK3 FAM50A EMD CH17-340M24.3 |
nsv508816 | Chr.X:154492171 - 154591783 on Build GRCh38 | Insertion | FAM223A FAM3A IKBKG G6PD CTAG1A |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |