Assay Details
Target Gene Details
Entrez Gene ID: | 10560 |
Gene Name: | solute carrier family 19 member 2 |
Gene Aliases: |
TC1, THMD1, THT1, THTR1, TRMA |
Location: |
Chr.1:169463909-169485970 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC19A2 | NM_001319667.1 | 3 | 746 | NP_001306596.1 |
NM_006996.2 | 4 | 1349 | NP_008927.1 | |
AB209540.1 | 1 | 476 | BAD92777.1 | |
AF135488.1 | 4 | 1305 | AAD45985.1 | |
AF153330.1 | 4 | 1382 | AAD43534.1 | |
AF160812.1 | 4 | 1241 | AAF15129.1 | |
AF272359.1 | 4 | 1145 | AAK54468.1 | |
AJ237724.1 | 4 | 1155 | CAB50770.1 | |
AK304021.1 | 4 | 1094 | ||
AK313779.1 | 4 | 1321 | ||
AK316465.1 | 3 | 823 | ||
BC018514.1 | 3 | 707 | AAH18514.1 | |
KU178534.1 | 3 | 542 | ||
KU178535.1 | 4 | 1145 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1005941 | Chr.1:169441248 - 169487155 on Build GRCh38 | Loss | SLC19A2 CCDC181 |
nsv1001454 | Chr.1:169418143 - 169496036 on Build GRCh38 | Gain | SLC19A2 CCDC181 |
esv22143 | Chr.1:169090390 - 169652030 on Build GRCh38 | Gain+Loss | ATP1B1 LOC101928596 BLZF1 SLC19A2 SELP F5 CCDC181 NME7 |
nsv831871 | Chr.1:169351435 - 169517442 on Build GRCh38 | Loss | BLZF1 SLC19A2 F5 CCDC181 NME7 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |