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 Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC6A19 | NM_001003841.2 | NP_001003841.1 | ||
AK096054.1 | ||||
AK290811.1 | ||||
AY591756.1 | AAT66171.1 | |||
AY596807.1 | 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 | SLC12A7 SLC6A19 CTD-3080P12.3 SLC6A18 |
esv3894109 | Chr.5:988113 - 1228100 on Build GRCh38 | Gain | SLC12A7 LOC100506688 MIR4635 SLC6A19 CTD-3080P12.3 NKD2 SLC6A18 |
nsv4678 | Chr.5:1173977 - 1219030 on Build GRCh38 | Deletion | SLC6A19 CTD-3080P12.3 |
esv3575810 | Chr.5:1055511 - 1282578 on Build GRCh38 | Gain | SLC12A7 MIR4635 SLC6A19 CTD-3080P12.3 TERT SLC6A18 |
nsv509044 | Chr.5:1147636 - 1265572 on Build GRCh38 | Insertion | SLC12A7 SLC6A19 CTD-3080P12.3 TERT SLC6A18 |
esv2729443 | Chr.5:1209981 - 1210410 on Build GRCh38 | Deletion | SLC6A19 |
nsv950627 | Chr.5:1008886 - 1300685 on Build GRCh38 | Deletion | SLC12A7 MIR4635 SLC6A19 CTD-3080P12.3 TERT NKD2 SLC6A18 |
nsv596629 | Chr.5:457146 - 1468172 on Build GRCh38 | Gain | MIR4456 LINC01511 EXOC3 LOC100996325 TRIP13 CTD-3080P12.3 ZDHHC11 TERT SLC6A3 PP7080 SLC6A18 MIR4457 ZDHHC11B LPCAT1 LOC100288152 CLPTM1L TPPP CEP72 SLC12A7 MIR4635 SLC9A3 SLC6A19 LOC100506688 BRD9 LOC101929895 NKD2 |
esv3603797 | Chr.5:1086744 - 1259707 on Build GRCh38 | Gain | SLC12A7 SLC6A19 CTD-3080P12.3 TERT SLC6A18 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |