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 | 6771 | NP_001268392.1 |
NM_006306.3 | 25 | 6625 | NP_006297.2 | |
AK055575.1 | 1 | 180 | ||
AK091458.1 | 1 | 722 |
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 | KANTR MIR6894 SNORA11 FAM104B MAGEH1 HSD17B10 PAGE3 FOXR2 LOC100421746 TSR2 FAM156B FAM120C HUWE1 RIBC1 MIR6857 SMC1A MIR98 ITIH6 GNL3L MAGED2 KDM5C IQSEC2 PFKFB1 ALAS2 TRO TSPYL2 APEX2 MIRLET7F2 GPR173 XAGE3 PHF8 PAGE2 FAM156A FGD1 SNORA109 MTRNR2L10 MIR6895 MIR4536-1 MIR4536-2 USP51 WNK3 PAGE5 PAGE2B |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | KANTR MIR6894 SNORA11 FAM104B MAGEH1 HSD17B10 PAGE3 FOXR2 LOC100421746 TSR2 FAM156B FAM120C HUWE1 RIBC1 MIR6857 SMC1A MIR98 ITIH6 GNL3L MAGED2 KDM5C IQSEC2 PFKFB1 ALAS2 TRO TSPYL2 APEX2 MIRLET7F2 GPR173 XAGE3 PHF8 PAGE2 FAM156A FGD1 SNORA109 MTRNR2L10 MIR6895 MIR4536-1 MIR4536-2 USP51 WNK3 PAGE5 PAGE2B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |