SLC29A2
solute carrier family 29 member 2
Summary
The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3177514 | 11:66,130,358 | T/A | — | — |
| rs775873193 | 11:66,130,941 | G/T | — | uncertain significance |
| rs200880227 | 11:66,130,987 | C/T | — | uncertain significance |
| rs1248037242 | 11:66,131,757 | T/C | — | uncertain significance |
| rs774223827 | 11:66,131,817 | C/T | — | uncertain significance |
| rs375170903 | 11:66,131,879 | C/T | — | uncertain significance |
| rs775586357 | 11:66,131,880 | G/A | — | uncertain significance |
| rs138695203 | 11:66,133,642 | C/T | — | uncertain significance |
| rs368450638 | 11:66,133,651 | C/T | — | uncertain significance |
| rs8187655 | 11:66,133,923 | — | — | — |
| rs8187656 | 11:66,133,924 | — | — | — |
| rs781690791 | 11:66,134,028 | G/T | — | uncertain significance |
| rs773224382 | 11:66,134,948 | C/G | — | uncertain significance |
| rs1318048822 | 11:66,134,979 | G/A | — | uncertain significance |
| rs2495440770 | 11:66,135,323 | T/A | — | uncertain significance |
| rs200681710 | 11:66,135,326 | C/T | — | uncertain significance |
| rs8187649 | 11:66,135,335 | — | — | — |
| rs1855797852 | 11:66,135,337 | C/T | — | uncertain significance |
| rs2292123 | 11:66,135,898 | T/C | downstream gene variant | — |
| rs901637034 | 11:66,136,019 | A/C | — | uncertain significance |
| rs2495444611 | 11:66,136,025 | A/G | — | uncertain significance |
| rs972868282 | 11:66,136,073 | A/T | — | uncertain significance |
| rs764592046 | 11:66,136,079 | C/G | — | uncertain significance |
| rs1174718296 | 11:66,136,551 | G/A | — | uncertain significance |
| rs193245057 | 11:66,136,552 | C/A | — | uncertain significance |
| rs748937626 | 11:66,136,575 | C/G | — | uncertain significance |
| rs1433003361 | 11:66,136,653 | C/T | — | uncertain significance |
| rs200637398 | 11:66,136,939 | G/A | — | uncertain significance |
| rs780716709 | 11:66,136,993 | G/A | — | uncertain significance |
| rs8187643 | 11:66,139,050 | C/A | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.