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 Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ALAS2 | NM_000032.4 | NP_000023.2 | ||
NM_001037967.3 | NP_001033056.1 | |||
NM_001037968.3 | NP_001033057.1 | |||
XM_005261995.3 | XP_005262052.1 | |||
XM_011530771.1 | XP_011529073.1 | |||
XM_017029354.1 | XP_016884843.1 | |||
AK290565.1 | ||||
AK291589.1 | ||||
AK313118.1 | ||||
BC030230.2 | ||||
BP284609.1 | ||||
X56352.1 | CAA39795.1 | |||
X60364.1 | 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 | KANTR SNORA11 GNL3L LOC100421746 MIR98 IQSEC2 MIR6895 XAGE3 FAM120C MIR6894 KDM5C MTRNR2L10 RIBC1 MAGEH1 PAGE2B WNK3 ITIH6 SNORA109 FAM156B FAM104B SMC1A PAGE3 APEX2 TRO PAGE2 USP51 GPR173 HSD17B10 TSPYL2 ALAS2 PAGE5 FAM156A MIR4536-1 MAGED2 MIRLET7F2 FOXR2 PFKFB1 HUWE1 FGD1 PHF8 MIR4536-2 MIR6857 TSR2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | KANTR SNORA11 GNL3L LOC100421746 MIR98 IQSEC2 MIR6895 XAGE3 FAM120C MIR6894 KDM5C MTRNR2L10 RIBC1 MAGEH1 PAGE2B WNK3 ITIH6 SNORA109 FAM156B FAM104B SMC1A PAGE3 APEX2 TRO PAGE2 USP51 GPR173 HSD17B10 TSPYL2 ALAS2 PAGE5 FAM156A MIR4536-1 MAGED2 MIRLET7F2 FOXR2 PFKFB1 HUWE1 FGD1 PHF8 MIR4536-2 MIR6857 TSR2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |