SLC31A1
solute carrier family 31 member 1
Summary
The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10981694 | 9:115,986,409 | T/G | regulatory region variant | — |
| rs10121845 | 9:115,989,723 | G/A | intron variant | — |
| rs6477998 | 9:115,997,249 | C/A | intron variant | — |
| rs116786854 | 9:116,011,476 | C/T | intron variant | — |
| rs2490723083 | 9:116,018,453 | A/G | — | uncertain significance |
| rs2233915 | 9:116,018,501 | C/G | — | benign |
| rs1372979710 | 9:116,018,504 | A/G | — | likely benign |
| rs1252259969 | 9:116,018,534 | G/A | — | uncertain significance |
| rs533375444 | 9:116,019,396 | A/G | — | uncertain significance |
| rs2490725320 | 9:116,019,429 | C/A | — | uncertain significance |
| rs777108607 | 9:116,019,454 | A/G | — | uncertain significance |
| rs2490727959 | 9:116,021,007 | T/C | — | likely pathogenic |
| rs1831756424 | 9:116,021,046 | G/T | — | uncertain significance |
| rs2490728083 | 9:116,021,055 | G/A | — | pathogenic |
| rs375955349 | 9:116,021,079 | A/G | — | uncertain significance |
| rs2233916 | 9:116,021,136 | C/G | — | uncertain significance |
| rs538420854 | 9:116,022,685 | G/A | — | uncertain significance |
| rs147107178 | 9:116,022,705 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.