Assay Details
Target Gene Details
Entrez Gene ID: | 3074 |
Gene Name: | hexosaminidase subunit beta |
Gene Aliases: |
ENC-1AS, HEL-248, HEL-S-111 |
Location: |
Chr.5:74640023-74721288 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| HEXB | NM_001292004.1 | NP_001278933.1 | ||
| AY643499.1 | AAV48875.1 | |||
| FJ224336.1 | ||||
| GQ472222.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv2730312 | Chr.5:74652248 - 74659925 on Build GRCh38 | Deletion |
|
More Information
Set Membership: |
|

Genomic Map