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 | 7004 | NP_001268392.1 |
NM_006306.3 | 25 | 6858 | NP_006297.2 | |
AK055575.1 | 1 | 413 | ||
AK091458.1 | 1 | 955 |
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 | RIBC1 MAGED2 KANTR WNK3 PAGE2 APEX2 IQSEC2 PAGE5 HSD17B10 PFKFB1 FGD1 FAM156A SMC1A GNL3L MTRNR2L10 MIR98 FAM104B LOC100421746 FOXR2 PAGE2B MIR6894 SNORA109 PAGE3 MIR6857 ITIH6 HUWE1 PHF8 SNORA11 KDM5C MIR4536-1 USP51 TRO XAGE3 MAGEH1 FAM120C MIR4536-2 FAM156B MIRLET7F2 TSR2 ALAS2 MIR6895 TSPYL2 GPR173 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | RIBC1 MAGED2 KANTR WNK3 PAGE2 APEX2 IQSEC2 PAGE5 HSD17B10 PFKFB1 FGD1 FAM156A SMC1A GNL3L MTRNR2L10 MIR98 FAM104B LOC100421746 FOXR2 PAGE2B MIR6894 SNORA109 PAGE3 MIR6857 ITIH6 HUWE1 PHF8 SNORA11 KDM5C MIR4536-1 USP51 TRO XAGE3 MAGEH1 FAM120C MIR4536-2 FAM156B MIRLET7F2 TSR2 ALAS2 MIR6895 TSPYL2 GPR173 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |