Assay Details
Target Gene Details
Entrez Gene ID: | 212 |
Gene Name: | 5'-aminolevulinate synthase 2 |
Gene Aliases: |
ALAS-E, ALASE, ANH1, ASB, SIDBA1, XLDPP, XLEPP, XLSA |
Location: |
Chr.X:55009055-55031064 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ALAS2 | NM_000032.4 | 2 | 229 | NP_000023.2 |
NM_001037967.3 | 2 | 229 | NP_001033056.1 | |
NM_001037968.3 | 3 | 336 | NP_001033057.1 | |
XM_005261995.3 | 3 | 249 | XP_005262052.1 | |
XM_011530771.1 | 2 | 142 | XP_011529073.1 | |
XM_017029354.1 | 3 | 250 | XP_016884843.1 | |
AK290565.1 | 1 | 102 | ||
AK291589.1 | 2 | 142 | ||
AK313118.1 | 2 | 229 | ||
BC030230.2 | 2 | 215 | ||
BP233279.1 | 3 | 249 | ||
BP284609.1 | 2 | 229 | ||
X56352.1 | 1 | 88 | CAA39795.1 | |
X60364.1 | 2 | 143 | CAA42916.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2740175 | Chr.X:52862926 - 55652533 on Build GRCh38 | Deletion | PAGE2 IQSEC2 SNORA109 HUWE1 MIRLET7F2 MIR4536-1 PAGE5 FAM120C SNORA11 MTRNR2L10 GPR173 FOXR2 GNL3L FAM156B FAM156A KDM5C TSR2 XAGE3 PAGE3 MAGEH1 MIR6894 MAGED2 ALAS2 LOC100421746 ITIH6 APEX2 TRO HSD17B10 KANTR RIBC1 WNK3 PHF8 USP51 MIR4536-2 MIR6895 TSPYL2 PAGE2B FGD1 MIR98 FAM104B SMC1A MIR6857 PFKFB1 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | PAGE2 IQSEC2 SNORA109 HUWE1 MIRLET7F2 MIR4536-1 PAGE5 FAM120C SNORA11 MTRNR2L10 GPR173 FOXR2 GNL3L FAM156B FAM156A KDM5C TSR2 XAGE3 PAGE3 MAGEH1 MIR6894 MAGED2 ALAS2 LOC100421746 ITIH6 APEX2 TRO HSD17B10 KANTR RIBC1 WNK3 PHF8 USP51 MIR4536-2 MIR6895 TSPYL2 PAGE2B FGD1 MIR98 FAM104B SMC1A MIR6857 PFKFB1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |