Assay Details
Target Gene Details
Entrez Gene ID: | 2132 |
Gene Name: | exostosin glycosyltransferase 2 |
Gene Aliases: |
SOTV, SSMS |
Location: |
Chr.11:44095549-44245430 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EXT2 | NM_000401.3 | 2 | 258 | NP_000392.3 |
NM_001178083.1 | 2 | 437 | NP_001171554.1 | |
NM_207122.1 | 2 | 437 | NP_997005.1 | |
XM_011519950.1 | 3 | 256 | XP_011518252.1 | |
XM_011519951.1 | 3 | 366 | XP_011518253.1 | |
AK296713.1 | 2 | 308 | ||
AK312375.1 | 2 | 314 | ||
BC010058.1 | 2 | 311 | AAH10058.1 | |
BC068545.1 | 2 | 277 | AAH68545.1 | |
BX648142.1 | 2 | 235 | ||
DA738392.1 | 2 | 259 | ||
U62740.1 | 2 | 437 | AAB07008.1 | |
U64511.1 | 1 | 129 | AAC50764.1 | |
U72263.1 | 2 | 269 | AAB62718.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832139 | Chr.11:44063681 - 44277647 on Build GRCh38 | Loss | ALX4 EXT2 ACCS |
nsv1043523 | Chr.11:44082672 - 44137619 on Build GRCh38 | Gain | EXT2 ACCS |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |