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