Assay Details
Target Gene Details
Entrez Gene ID: | 2720 |
Gene Name: | galactosidase beta 1 |
Gene Aliases: |
EBP, ELNR1, MPS4B |
Location: |
Chr.3:32996608-33097230 on Build GRCh38 |
Assay Gene Location: | Within Exon 18 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| GLB1 | NM_000404.3 | 16 | 2403 | NP_000395.2 |
| NM_001079811.2 | 16 | 2297 | NP_001073279.1 | |
| NM_001135602.2 | 13 | 2010 | NP_001129074.1 | |
| NM_001317040.1 | 17 | 2547 | NP_001303969.1 | |
| AI091692.1 | 1 | 233 | ||
| AK130133.1 | 16 | 2331 | ||
| AK223091.1 | 16 | 2319 | BAD96811.1 | |
| AK300021.1 | ||||
| AK300753.1 | 17 | 2463 | ||
| BC007493.2 | 16 | 2305 | AAH07493.1 | |
| M22590.1 | 16 | 2292 | AAA51822.1 | |
| M27507.1 | 16 | 2308 | AAA51819.1 | |
| M27508.1 | 13 | 1915 | AAA35599.1 | |
| M34423.1 | 16 | 2318 | AAA51823.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv998302 | Chr.3:32595752 - 33112754 on Build GRCh38 | Gain |
|
| nsv1003285 | Chr.3:31386933 - 33172886 on Build GRCh38 | Gain |
|
| nsv3753 | Chr.3:32966390 - 33027225 on Build GRCh38 | Insertion |
|
More Information
Set Membership: |
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Genomic Map