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 | 9172 | NP_001268392.1 |
NM_006306.3 | 25 | 9026 | NP_006297.2 | |
AK055575.1 | 2 | 2222 | ||
AK056308.1 | 1 | 1264 | ||
AK091458.1 | 1 | 3123 |
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 | MIR98 PAGE2B MAGEH1 HUWE1 MIR6894 MIRLET7F2 TSPYL2 MAGED2 MIR6857 TRO HSD17B10 MTRNR2L10 PAGE3 KDM5C WNK3 GNL3L FGD1 FOXR2 FAM104B SNORA11 RIBC1 IQSEC2 FAM156B PAGE5 LOC100421746 PAGE2 FAM156A USP51 GPR173 APEX2 ALAS2 SMC1A SNORA109 PFKFB1 MIR6895 KANTR ITIH6 FAM120C PHF8 TSR2 MIR4536-2 MIR4536-1 XAGE3 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIR98 PAGE2B MAGEH1 HUWE1 MIR6894 MIRLET7F2 TSPYL2 MAGED2 MIR6857 TRO HSD17B10 MTRNR2L10 PAGE3 KDM5C WNK3 GNL3L FGD1 FOXR2 FAM104B SNORA11 RIBC1 IQSEC2 FAM156B PAGE5 LOC100421746 PAGE2 FAM156A USP51 GPR173 APEX2 ALAS2 SMC1A SNORA109 PFKFB1 MIR6895 KANTR ITIH6 FAM120C PHF8 TSR2 MIR4536-2 MIR4536-1 XAGE3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |