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 | 9856 | NP_001268392.1 |
NM_006306.3 | 25 | 9710 | NP_006297.2 | |
AK055575.1 | 2 | 2906 | ||
AK056308.1 | 1 | 1948 |
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 | XAGE3 MAGED2 FAM104B ITIH6 FOXR2 WNK3 SNORA109 PAGE2B MIRLET7F2 PAGE2 MIR98 GNL3L TRO RIBC1 TSR2 KDM5C FAM156B PAGE3 GPR173 APEX2 MIR6857 LOC100421746 PFKFB1 MIR6895 PAGE5 MIR4536-1 FAM120C HSD17B10 SNORA11 IQSEC2 SMC1A MIR6894 TSPYL2 MIR4536-2 PHF8 ALAS2 HUWE1 FGD1 KANTR MAGEH1 USP51 FAM156A MTRNR2L10 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | XAGE3 MAGED2 FAM104B ITIH6 FOXR2 WNK3 SNORA109 PAGE2B MIRLET7F2 PAGE2 MIR98 GNL3L TRO RIBC1 TSR2 KDM5C FAM156B PAGE3 GPR173 APEX2 MIR6857 LOC100421746 PFKFB1 MIR6895 PAGE5 MIR4536-1 FAM120C HSD17B10 SNORA11 IQSEC2 SMC1A MIR6894 TSPYL2 MIR4536-2 PHF8 ALAS2 HUWE1 FGD1 KANTR MAGEH1 USP51 FAM156A MTRNR2L10 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |