Assay Details
Target Gene Details
Entrez Gene ID: | 340024 |
Gene Name: | solute carrier family 6 member 19 |
Gene Aliases: |
B0AT1, HND |
Location: |
Chr.5:1201595-1225117 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC6A19 | NM_001003841.2 | 4 | 650 | NP_001003841.1 |
AK096054.1 | 4 | 558 | ||
AK290811.1 | 4 | 650 | ||
AY591756.1 | 4 | 594 | AAT66171.1 | |
AY596807.1 | 4 | 594 | AAT42127.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1033961 | Chr.5:1128595 - 1248239 on Build GRCh38 | Gain | CTD-3080P12.3 SLC6A18 SLC12A7 SLC6A19 |
esv3894109 | Chr.5:988113 - 1228100 on Build GRCh38 | Gain | CTD-3080P12.3 MIR4635 NKD2 SLC6A18 SLC12A7 SLC6A19 LOC100506688 |
nsv4678 | Chr.5:1173977 - 1219030 on Build GRCh38 | Deletion | CTD-3080P12.3 SLC6A19 |
esv3575810 | Chr.5:1055511 - 1282578 on Build GRCh38 | Gain | CTD-3080P12.3 TERT MIR4635 SLC6A18 SLC12A7 SLC6A19 |
dgv3196e59 | Chr.5:1211237 - 1212635 on Build GRCh38 | Duplication | SLC6A19 |
nsv509044 | Chr.5:1147636 - 1265572 on Build GRCh38 | Insertion | CTD-3080P12.3 TERT SLC6A18 SLC12A7 SLC6A19 |
nsv950627 | Chr.5:1008886 - 1300685 on Build GRCh38 | Deletion | CTD-3080P12.3 TERT MIR4635 NKD2 SLC6A18 SLC12A7 SLC6A19 |
nsv596629 | Chr.5:457146 - 1468172 on Build GRCh38 | Gain | CTD-3080P12.3 BRD9 CEP72 PP7080 LOC100506688 CLPTM1L TRIP13 MIR4457 TERT EXOC3 LOC100996325 ZDHHC11B SLC9A3 MIR4635 TPPP MIR4456 SLC6A19 ZDHHC11 SLC6A3 LINC01511 LOC100288152 NKD2 SLC6A18 SLC12A7 LPCAT1 LOC101929895 |
esv3603797 | Chr.5:1086744 - 1259707 on Build GRCh38 | Gain | CTD-3080P12.3 TERT SLC6A18 SLC12A7 SLC6A19 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |