Assay Details
Target Gene Details
Entrez Gene ID: | 2134 |
Gene Name: | exostosin like glycosyltransferase 1 |
Gene Aliases: |
EXTL |
Location: |
Chr.1:26021749-26036464 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 9 - Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EXTL1 | NM_004455.2 | NP_004446.2 | ||
XM_005245779.3 | XP_005245836.1 | |||
BC065528.1 | AAH65528.1 | |||
U67191.1 | AAC51141.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv834513 | Chr.1:25922980 - 26087385 on Build GRCh38 | Gain | PAFAH2 TRIM63 EXTL1 SLC30A2 |
nsv950338 | Chr.1:26031610 - 26047909 on Build GRCh38 | Deletion | EXTL1 SLC30A2 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |