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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SLC19A2 | NM_001319667.1 | 5 | 2542 | NP_001306596.1 |
NM_006996.2 | 6 | 3145 | NP_008927.1 | |
AB209540.1 | 2 | 2660 | BAD92777.1 | |
AF135488.1 | 6 | 3101 | AAD45985.1 | |
AF153330.1 | 6 | 3178 | AAD43534.1 | |
AF160812.1 | 6 | 3037 | AAF15129.1 | |
AJ237724.1 | 6 | 2951 | CAB50770.1 | |
BC018514.1 | 5 | 2503 | AAH18514.1 |
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 | CCDC181 SLC19A2 |
nsv1001454 | Chr.1:169418143 - 169496036 on Build GRCh38 | Gain | CCDC181 SLC19A2 |
esv22143 | Chr.1:169090390 - 169652030 on Build GRCh38 | Gain+Loss | ATP1B1 LOC101928596 CCDC181 F5 NME7 SELP SLC19A2 BLZF1 |
nsv831871 | Chr.1:169351435 - 169517442 on Build GRCh38 | Loss | CCDC181 F5 NME7 SLC19A2 BLZF1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |