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