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 | 3997 | NP_001268392.1 |
NM_006306.3 | 25 | 3851 | NP_006297.2 | |
BC112127.1 | 25 | 3791 | AAI12128.1 | |
D80000.2 | 25 | 3723 | BAA11495.2 | |
S78271.1 | 25 | 3756 | AAB34405.1 |
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 | MIR6895 PHF8 USP51 MIR98 IQSEC2 GPR173 PAGE2 FAM120C MIR4536-1 MIR6857 MIR4536-2 HSD17B10 PAGE2B APEX2 KDM5C FGD1 KANTR HUWE1 TSPYL2 FAM104B SNORA11 XAGE3 ITIH6 MTRNR2L10 MAGED2 TRO MIR6894 ALAS2 SNORA109 MIRLET7F2 FOXR2 PAGE5 LOC100421746 GNL3L WNK3 SMC1A PFKFB1 FAM156B RIBC1 FAM156A PAGE3 TSR2 MAGEH1 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | MIR6895 PHF8 USP51 MIR98 IQSEC2 GPR173 PAGE2 FAM120C MIR4536-1 MIR6857 MIR4536-2 HSD17B10 PAGE2B APEX2 KDM5C FGD1 KANTR HUWE1 TSPYL2 FAM104B SNORA11 XAGE3 ITIH6 MTRNR2L10 MAGED2 TRO MIR6894 ALAS2 SNORA109 MIRLET7F2 FOXR2 PAGE5 LOC100421746 GNL3L WNK3 SMC1A PFKFB1 FAM156B RIBC1 FAM156A PAGE3 TSR2 MAGEH1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |