Assay Details
Target Gene Details
Entrez Gene ID: | 2131 |
Gene Name: | exostosin glycosyltransferase 1 |
Gene Aliases: |
EXT, LGCR, LGS, TRPS2, TTV |
Location: |
Chr.8:117797496-118111819 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EXT1 | NM_000127.2 | NP_000118.2 | ||
AK130054.1 | ||||
AK313129.1 | ||||
BC001174.1 | AAH01174.1 | |||
S79639.1 | AAB62283.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831439 | Chr.8:117735113 - 117886879 on Build GRCh38 | Gain | EXT1 |
nsv831438 | Chr.8:117667657 - 117811361 on Build GRCh38 | Loss | EXT1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |