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 Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ALAS2 | NM_000032.4 | 6 | 902 | NP_000023.2 |
NM_001037967.3 | 5 | 791 | NP_001033056.1 | |
NM_001037968.3 | 6 | 898 | NP_001033057.1 | |
XM_005261995.3 | 7 | 922 | XP_005262052.1 | |
XM_011530771.1 | 4 | 481 | XP_011529073.1 | |
XM_017029354.1 | 7 | 923 | XP_016884843.1 | |
AK290565.1 | 5 | 775 | ||
AK291589.1 | 5 | 704 | ||
AK313118.1 | 6 | 902 | ||
BC030230.2 | 5 | 777 | ||
X56352.1 | 5 | 761 | CAA39795.1 | |
X60364.1 | 6 | 816 | 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 | TSR2 PAGE5 MIR6857 MIR4536-1 ITIH6 MAGEH1 MIR98 PHF8 USP51 MAGED2 FAM156B ALAS2 FAM156A APEX2 PAGE2 HUWE1 MIR6895 XAGE3 GNL3L SMC1A TSPYL2 SNORA11 PAGE2B WNK3 FGD1 TRO HSD17B10 GPR173 KDM5C IQSEC2 MIR6894 MTRNR2L10 PFKFB1 MIR4536-2 RIBC1 FAM104B SNORA109 LOC100421746 MIRLET7F2 FOXR2 PAGE3 FAM120C KANTR |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | TSR2 PAGE5 MIR6857 MIR4536-1 ITIH6 MAGEH1 MIR98 PHF8 USP51 MAGED2 FAM156B ALAS2 FAM156A APEX2 PAGE2 HUWE1 MIR6895 XAGE3 GNL3L SMC1A TSPYL2 SNORA11 PAGE2B WNK3 FGD1 TRO HSD17B10 GPR173 KDM5C IQSEC2 MIR6894 MTRNR2L10 PFKFB1 MIR4536-2 RIBC1 FAM104B SNORA109 LOC100421746 MIRLET7F2 FOXR2 PAGE3 FAM120C KANTR |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |