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 24 - Exon 25 |
| 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 |
|
| nsv435891 | Chr.X:52861979 - 55653313 on Build GRCh38 | Deletion |
|
More Information
Set Membership: |
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Genomic Map