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 | 9172 | NP_001268392.1 |
NM_006306.3 | 25 | 9026 | NP_006297.2 | |
AK055575.1 | 2 | 2222 | ||
AK056308.1 | 1 | 1264 | ||
AK091458.1 | 1 | 3123 |
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 USP51 WNK3 SNORA109 LOC100421746 MIRLET7F2 APEX2 PHF8 MAGED2 SMC1A SNORA11 KANTR MIR6894 RIBC1 FAM104B FAM120C MAGEH1 KDM5C MIR4536-2 GPR173 TSR2 PFKFB1 PAGE2 FAM156A HUWE1 FOXR2 MIR6857 MIR98 TSPYL2 MTRNR2L10 FGD1 PAGE5 MIR6895 ITIH6 PAGE2B ALAS2 PAGE3 TRO XAGE3 HSD17B10 MIR4536-1 FAM156B IQSEC2 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | GNL3L USP51 WNK3 SNORA109 LOC100421746 MIRLET7F2 APEX2 PHF8 MAGED2 SMC1A SNORA11 KANTR MIR6894 RIBC1 FAM104B FAM120C MAGEH1 KDM5C MIR4536-2 GPR173 TSR2 PFKFB1 PAGE2 FAM156A HUWE1 FOXR2 MIR6857 MIR98 TSPYL2 MTRNR2L10 FGD1 PAGE5 MIR6895 ITIH6 PAGE2B ALAS2 PAGE3 TRO XAGE3 HSD17B10 MIR4536-1 FAM156B IQSEC2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |