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