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