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 | PAGE3 PFKFB1 HSD17B10 SNORA109 ITIH6 XAGE3 MIR6895 TSPYL2 PHF8 MIR4536-2 USP51 TSR2 PAGE2 RIBC1 MIR98 FAM156A KDM5C FOXR2 PAGE2B SMC1A MIR6894 FAM120C TRO PAGE5 GNL3L SNORA11 MIR6857 ALAS2 IQSEC2 APEX2 MAGEH1 MAGED2 MTRNR2L10 MIRLET7F2 FAM104B GPR173 FAM156B HUWE1 KANTR LOC100421746 MIR4536-1 WNK3 FGD1 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | PAGE3 PFKFB1 HSD17B10 SNORA109 ITIH6 XAGE3 MIR6895 TSPYL2 PHF8 MIR4536-2 USP51 TSR2 PAGE2 RIBC1 MIR98 FAM156A KDM5C FOXR2 PAGE2B SMC1A MIR6894 FAM120C TRO PAGE5 GNL3L SNORA11 MIR6857 ALAS2 IQSEC2 APEX2 MAGEH1 MAGED2 MTRNR2L10 MIRLET7F2 FAM104B GPR173 FAM156B HUWE1 KANTR LOC100421746 MIR4536-1 WNK3 FGD1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |