SLC14A1
solute carrier family 14 member 1 (Kidd blood group)
Summary
The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]
Known Variants41 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11877062 | 18:43,307,246 | C/T | — | benign |
| rs11877086 | 18:43,307,338 | C/A | — | benign |
| rs17674580 | 18:43,309,911 | C/T | downstream gene variant | — |
| rs113578396 | 18:43,310,313 | G/A | — | benign |
| rs765284140 | 18:43,310,346 | C/A | — | uncertain significance |
| rs146079238 | 18:43,310,347 | A/G | — | uncertain significance |
| rs2298720 | 18:43,310,415 | G/A | — | benign |
| rs779835840 | 18:43,311,047 | C/A | — | uncertain significance |
| rs113029149 | 18:43,311,054 | G/A | — | benign |
| rs2047018661 | 18:43,311,115 | G/T | — | uncertain significance |
| rs28994287 | 18:43,311,131 | G/A | — | benign |
| rs959314162 | 18:43,311,141 | C/G | — | uncertain significance |
| rs17674709 | 18:43,311,380 | C/A | coding sequence variant | — |
| rs78937798 | 18:43,314,238 | G/A | — | likely pathogenic |
| rs374022751 | 18:43,314,247 | T/C | — | likely benign |
| rs778632720 | 18:43,314,249 | G/A | — | uncertain significance |
| rs768933061 | 18:43,314,296 | G/A | — | uncertain significance |
| rs16978473 | 18:43,314,299 | T/C | — | benign |
| rs1415543271 | 18:43,314,325 | T/G | — | uncertain significance |
| rs368758488 | 18:43,316,451 | G/C | — | uncertain significance |
| rs9948825 | 18:43,316,461 | T/C | — | benign |
| rs765470894 | 18:43,316,504 | C/T | — | uncertain significance |
| rs2298718 | 18:43,316,538 | G/A | — | benign |
| rs1359273814 | 18:43,316,584 | A/G | — | likely benign |
| rs77744921 | 18:43,316,614 | G/T | — | pathogenic |
| rs7237102 | 18:43,316,901 | G/T | intron variant | — |
| rs7238033 | 18:43,316,966 | T/C | intron variant | — |
| rs10775480 | 18:43,317,282 | T/C | intron variant | — |
| rs760579000 | 18:43,319,182 | T/C | — | uncertain significance |
| rs2511246675 | 18:43,319,203 | G/A | — | uncertain significance |
| rs763095261 | 18:43,319,206 | G/A | — | uncertain significance |
| rs201451018 | 18:43,319,234 | G/T | — | uncertain significance |
| rs777313922 | 18:43,319,273 | C/A | — | affects |
| rs1058396 | 18:43,319,519 | G/A | missense variant | benign |
| rs78242949 | 18:43,319,552 | T/C | missense variant | pathogenic |
| rs1072595 | 18:43,327,086 | C/T | splice region variant | — |
| rs759312861 | 18:43,329,785 | C/G | — | uncertain significance |
| rs756254780 | 18:43,329,857 | G/A | — | uncertain significance |
| rs35942326 | 18:43,329,864 | A/T | — | uncertain significance |
| rs374937387 | 18:43,329,867 | G/A | — | uncertain significance |
| rs1135979 | 18:43,331,196 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.