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