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 12 |
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 | |||
AK290565.1 | ||||
AK291589.1 | ||||
AK313118.1 | ||||
BC030230.2 | ||||
BQ182291.1 | ||||
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 | MIR6894 MIR4536-2 IQSEC2 FGD1 FAM156B MIR98 HSD17B10 MIR6895 APEX2 FAM120C MIR6857 TSPYL2 SMC1A HUWE1 TRO PAGE5 PAGE2B MAGED2 PHF8 PAGE2 KANTR GNL3L FAM104B XAGE3 PFKFB1 LOC100421746 KDM5C ALAS2 MIR4536-1 MIRLET7F2 FAM156A GPR173 PAGE3 ITIH6 SNORA11 SNORA109 RIBC1 WNK3 USP51 TSR2 MAGEH1 MTRNR2L10 FOXR2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIR6894 MIR4536-2 IQSEC2 FGD1 FAM156B MIR98 HSD17B10 MIR6895 APEX2 FAM120C MIR6857 TSPYL2 SMC1A HUWE1 TRO PAGE5 PAGE2B MAGED2 PHF8 PAGE2 KANTR GNL3L FAM104B XAGE3 PFKFB1 LOC100421746 KDM5C ALAS2 MIR4536-1 MIRLET7F2 FAM156A GPR173 PAGE3 ITIH6 SNORA11 SNORA109 RIBC1 WNK3 USP51 TSR2 MAGEH1 MTRNR2L10 FOXR2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |