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 | 7559 | NP_001268392.1 |
NM_006306.3 | 25 | 7413 | NP_006297.2 | |
AK055575.1 | ||||
AK091458.1 | 1 | 1510 |
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 | FAM156B LOC100421746 FOXR2 USP51 MIR6857 MIR4536-2 MIR98 FGD1 MIRLET7F2 KDM5C MAGEH1 TSR2 IQSEC2 SNORA109 PAGE3 GNL3L PAGE2B PFKFB1 FAM104B PHF8 APEX2 MTRNR2L10 ALAS2 PAGE2 FAM120C WNK3 ITIH6 FAM156A XAGE3 MAGED2 TSPYL2 MIR6894 SNORA11 MIR4536-1 PAGE5 MIR6895 TRO HSD17B10 RIBC1 KANTR SMC1A HUWE1 GPR173 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | FAM156B LOC100421746 FOXR2 USP51 MIR6857 MIR4536-2 MIR98 FGD1 MIRLET7F2 KDM5C MAGEH1 TSR2 IQSEC2 SNORA109 PAGE3 GNL3L PAGE2B PFKFB1 FAM104B PHF8 APEX2 MTRNR2L10 ALAS2 PAGE2 FAM120C WNK3 ITIH6 FAM156A XAGE3 MAGED2 TSPYL2 MIR6894 SNORA11 MIR4536-1 PAGE5 MIR6895 TRO HSD17B10 RIBC1 KANTR SMC1A HUWE1 GPR173 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |