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 | 7848 | NP_001268392.1 |
NM_006306.3 | 25 | 7702 | NP_006297.2 | |
AK055575.1 | 2 | 898 | ||
AK091458.1 | 1 | 1799 |
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 | PFKFB1 FAM120C GPR173 WNK3 USP51 ALAS2 MIR4536-1 RIBC1 LOC100421746 MIR6895 MIR4536-2 FAM156B XAGE3 TSPYL2 KDM5C SNORA11 PAGE2 MIR6857 FGD1 APEX2 PAGE2B MAGED2 FOXR2 SNORA109 GNL3L MTRNR2L10 KANTR MIR6894 IQSEC2 FAM104B ITIH6 MIRLET7F2 PAGE3 HUWE1 SMC1A PHF8 TSR2 MAGEH1 TRO FAM156A PAGE5 MIR98 HSD17B10 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | PFKFB1 FAM120C GPR173 WNK3 USP51 ALAS2 MIR4536-1 RIBC1 LOC100421746 MIR6895 MIR4536-2 FAM156B XAGE3 TSPYL2 KDM5C SNORA11 PAGE2 MIR6857 FGD1 APEX2 PAGE2B MAGED2 FOXR2 SNORA109 GNL3L MTRNR2L10 KANTR MIR6894 IQSEC2 FAM104B ITIH6 MIRLET7F2 PAGE3 HUWE1 SMC1A PHF8 TSR2 MAGEH1 TRO FAM156A PAGE5 MIR98 HSD17B10 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |