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: | Overlaps Intron 23 - Intron 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMC1A | NM_001281463.1 | NP_001268392.1 | ||
NM_006306.3 | NP_006297.2 | |||
BC112127.1 | AAI12128.1 | |||
D80000.2 | BAA11495.2 | |||
S78271.1 | 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 | SNORA11 RIBC1 FAM156B PAGE5 FAM156A HSD17B10 MIR4536-1 MAGED2 PAGE2B IQSEC2 TRO MIRLET7F2 USP51 PAGE3 HUWE1 FGD1 ALAS2 GNL3L MIR4536-2 APEX2 MIR98 FOXR2 MIR6895 PHF8 FAM104B WNK3 KANTR TSPYL2 TSR2 XAGE3 KDM5C LOC100421746 SMC1A SNORA109 FAM120C MIR6857 GPR173 MIR6894 PAGE2 ITIH6 PFKFB1 MAGEH1 MTRNR2L10 |
nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion | SNORA11 RIBC1 FAM156B PAGE5 FAM156A HSD17B10 MIR4536-1 MAGED2 PAGE2B IQSEC2 TRO MIRLET7F2 USP51 PAGE3 HUWE1 FGD1 ALAS2 GNL3L MIR4536-2 APEX2 MIR98 FOXR2 MIR6895 PHF8 FAM104B WNK3 KANTR TSPYL2 TSR2 XAGE3 KDM5C LOC100421746 SMC1A SNORA109 FAM120C MIR6857 GPR173 MIR6894 PAGE2 ITIH6 PFKFB1 MAGEH1 MTRNR2L10 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |