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: | Overlaps Intron 4 - Exon 4 |
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 | ||||
BP233279.1 | ||||
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 | MIR4536-1 GNL3L IQSEC2 XAGE3 FAM104B MAGEH1 PHF8 TSR2 MIRLET7F2 RIBC1 SMC1A GPR173 LOC100421746 FAM120C APEX2 PAGE3 SNORA109 HUWE1 FGD1 FAM156B USP51 HSD17B10 PAGE2B KANTR PAGE2 WNK3 TSPYL2 KDM5C MIR6857 ALAS2 MIR6895 FAM156A SNORA11 ITIH6 TRO MIR6894 FOXR2 PAGE5 MIR98 PFKFB1 MAGED2 MTRNR2L10 MIR4536-2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIR4536-1 GNL3L IQSEC2 XAGE3 FAM104B MAGEH1 PHF8 TSR2 MIRLET7F2 RIBC1 SMC1A GPR173 LOC100421746 FAM120C APEX2 PAGE3 SNORA109 HUWE1 FGD1 FAM156B USP51 HSD17B10 PAGE2B KANTR PAGE2 WNK3 TSPYL2 KDM5C MIR6857 ALAS2 MIR6895 FAM156A SNORA11 ITIH6 TRO MIR6894 FOXR2 PAGE5 MIR98 PFKFB1 MAGED2 MTRNR2L10 MIR4536-2 |
More Information
Additional Information:
For this assay, SNP(s) [rs150313977] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Non-exonic DGV Variation |