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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC6A19 | NM_001003841.2 | 1 | 108 | NP_001003841.1 |
AK096054.1 | 1 | 108 | ||
AK290811.1 | 1 | 108 | ||
AY591756.1 | 1 | 52 | AAT66171.1 | |
AY596807.1 | 1 | 52 | AAT42127.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv527182 | Chr.5:995155 - 1207412 on Build GRCh38 | Loss | MIR4635 SLC12A7 NKD2 LOC100506688 CTD-3080P12.3 SLC6A19 |
nsv1033961 | Chr.5:1128595 - 1248239 on Build GRCh38 | Gain | SLC12A7 SLC6A18 CTD-3080P12.3 SLC6A19 |
nsv596831 | Chr.5:1176486 - 1207412 on Build GRCh38 | Gain | CTD-3080P12.3 SLC6A19 |
esv3894109 | Chr.5:988113 - 1228100 on Build GRCh38 | Gain | MIR4635 SLC12A7 NKD2 SLC6A18 LOC100506688 CTD-3080P12.3 SLC6A19 |
nsv4678 | Chr.5:1173977 - 1219030 on Build GRCh38 | Deletion | CTD-3080P12.3 SLC6A19 |
esv3575810 | Chr.5:1055511 - 1282578 on Build GRCh38 | Gain | MIR4635 SLC12A7 SLC6A18 CTD-3080P12.3 SLC6A19 TERT |
nsv509044 | Chr.5:1147636 - 1265572 on Build GRCh38 | Insertion | SLC12A7 SLC6A18 CTD-3080P12.3 SLC6A19 TERT |
nsv470984 | Chr.5:992394 - 1207411 on Build GRCh38 | Loss | MIR4635 SLC12A7 NKD2 LOC100506688 CTD-3080P12.3 SLC6A19 |
nsv950627 | Chr.5:1008886 - 1300685 on Build GRCh38 | Deletion | MIR4635 SLC12A7 NKD2 SLC6A18 CTD-3080P12.3 SLC6A19 TERT |
nsv596629 | Chr.5:457146 - 1468172 on Build GRCh38 | Gain | MIR4457 CTD-3080P12.3 ZDHHC11 MIR4635 CEP72 TPPP LOC100506688 SLC6A3 TERT MIR4456 CLPTM1L BRD9 LOC100996325 PP7080 LPCAT1 SLC12A7 EXOC3 NKD2 LOC100288152 SLC6A18 TRIP13 SLC9A3 SLC6A19 LOC101929895 LINC01511 ZDHHC11B |
nsv596824 | Chr.5:1151046 - 1203322 on Build GRCh38 | Loss | SLC12A7 CTD-3080P12.3 SLC6A19 |
esv3603797 | Chr.5:1086744 - 1259707 on Build GRCh38 | Gain | SLC12A7 SLC6A18 CTD-3080P12.3 SLC6A19 TERT |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |