Assay Details
Target Gene Details
Entrez Gene ID: | 246213 |
Gene Name: | solute carrier family 17 member 8 |
Gene Aliases: |
DFNA25, VGLUT3 |
Location: |
Chr.12:100357079-100422059 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 1 - Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC17A8 | NM_001145288.1 | NP_001138760.1 | ||
NM_139319.2 | NP_647480.1 | |||
AJ459241.1 | CAD30553.1 | |||
AK128319.1 | ||||
BC117229.1 | ||||
BC143396.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3630554 | Chr.12:100350878 - 100364442 on Build GRCh38 | Loss | SLC17A8 |
nsv559964 | Chr.12:99872025 - 100538490 on Build GRCh38 | Gain | ANKS1B SCYL2 SLC17A8 MIR1827 DEPDC4 UHRF1BP1L NR1H4 ACTR6 GOLGA2P5 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |