Assay Details
Target Gene Details
Entrez Gene ID: | 8243 |
Gene Name: | structural maintenance of chromosomes 1A |
Gene Aliases: |
CDLS2, DXS423E, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB |
Location: |
Chr.X:53374149-53422728 on Build GRCh38 |
Assay Gene Location: | Within Exon 26 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMC1A | NM_001281463.1 | 26 | 6175 | NP_001268392.1 |
NM_006306.3 | 25 | 6029 | NP_006297.2 | |
AK091458.1 | 1 | 126 |
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 | SMC1A GPR173 FAM104B WNK3 KDM5C PAGE3 MAGEH1 FAM120C ALAS2 MAGED2 XAGE3 PHF8 SNORA109 ITIH6 IQSEC2 PFKFB1 PAGE2 FOXR2 PAGE5 GNL3L APEX2 LOC100421746 HSD17B10 FGD1 MIR4536-1 TSPYL2 TRO MIR98 FAM156B MIR6895 FAM156A MIRLET7F2 MIR6857 MIR4536-2 MTRNR2L10 RIBC1 SNORA11 PAGE2B HUWE1 USP51 TSR2 KANTR MIR6894 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | SMC1A GPR173 FAM104B WNK3 KDM5C PAGE3 MAGEH1 FAM120C ALAS2 MAGED2 XAGE3 PHF8 SNORA109 ITIH6 IQSEC2 PFKFB1 PAGE2 FOXR2 PAGE5 GNL3L APEX2 LOC100421746 HSD17B10 FGD1 MIR4536-1 TSPYL2 TRO MIR98 FAM156B MIR6895 FAM156A MIRLET7F2 MIR6857 MIR4536-2 MTRNR2L10 RIBC1 SNORA11 PAGE2B HUWE1 USP51 TSR2 KANTR MIR6894 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |