SLC4A7
solute carrier family 4 member 7
Summary
This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4973768 | 3:27,416,013 | C/T | 3 prime UTR variant | — |
| rs371468517 | 3:27,420,732 | A/G | — | likely benign |
| rs1023798749 | 3:27,424,672 | G/T | — | uncertain significance |
| rs1043329669 | 3:27,424,732 | G/A | — | uncertain significance |
| rs4973769 | 3:27,425,746 | T/C | intron variant | — |
| rs761540173 | 3:27,427,403 | T/C | — | uncertain significance |
| rs752083073 | 3:27,427,465 | T/G | — | uncertain significance |
| rs911459505 | 3:27,431,448 | C/G | — | uncertain significance |
| rs139643738 | 3:27,431,488 | C/G | — | uncertain significance |
| rs560270432 | 3:27,431,531 | C/T | — | uncertain significance |
| rs951233938 | 3:27,431,538 | A/G | — | uncertain significance |
| rs2307032 | 3:27,432,995 | T/G | — | — |
| rs955050835 | 3:27,433,288 | C/T | — | uncertain significance |
| rs375605357 | 3:27,436,083 | G/A | — | uncertain significance |
| rs746873840 | 3:27,436,150 | A/C | — | uncertain significance |
| rs772666324 | 3:27,436,217 | A/G | — | uncertain significance |
| rs545807896 | 3:27,436,221 | C/T | — | likely benign |
| rs746104271 | 3:27,436,515 | C/T | — | uncertain significance |
| rs1221694036 | 3:27,436,563 | T/A | — | uncertain significance |
| rs148520298 | 3:27,436,595 | T/C | — | likely benign |
| rs766431279 | 3:27,439,234 | T/C | — | likely benign |
| rs372420522 | 3:27,439,776 | A/G | — | likely benign |
| rs1285883778 | 3:27,442,352 | C/A | — | uncertain significance |
| rs142901157 | 3:27,444,664 | T/C | — | uncertain significance |
| rs2471911852 | 3:27,444,810 | A/C | — | uncertain significance |
| rs2471913610 | 3:27,444,861 | G/C | — | uncertain significance |
| rs768280411 | 3:27,446,333 | T/C | — | uncertain significance |
| rs2471958046 | 3:27,446,446 | T/C | — | uncertain significance |
| rs370980563 | 3:27,446,448 | T/C | — | uncertain significance |
| rs2053690193 | 3:27,450,899 | G/C | — | uncertain significance |
| rs770993461 | 3:27,453,163 | T/G | — | uncertain significance |
| rs750370741 | 3:27,453,184 | G/A | — | uncertain significance |
| rs370056312 | 3:27,453,211 | T/C | — | uncertain significance |
| rs11716531 | 3:27,457,208 | G/A | downstream gene variant | — |
| rs563086546 | 3:27,460,126 | A/G | — | likely benign |
| rs774350114 | 3:27,462,243 | G/A | — | uncertain significance |
| rs752991875 | 3:27,463,199 | G/C | — | uncertain significance |
| rs139934290 | 3:27,465,567 | A/G | — | likely benign |
| rs149030403 | 3:27,472,846 | C/T | — | likely benign |
| rs187555718 | 3:27,472,887 | T/C | — | uncertain significance |
| rs2472542349 | 3:27,473,019 | C/G | — | uncertain significance |
| rs2472542934 | 3:27,473,028 | G/A | — | uncertain significance |
| rs2472543010 | 3:27,473,029 | C/T | — | uncertain significance |
| rs748011867 | 3:27,473,058 | A/T | — | uncertain significance |
| rs773216830 | 3:27,473,061 | T/C | — | uncertain significance |
| rs139463553 | 3:27,473,127 | C/T | — | uncertain significance |
| rs145640462 | 3:27,473,139 | C/T | — | uncertain significance |
| rs2056529409 | 3:27,475,479 | G/T | — | likely benign |
| rs569576910 | 3:27,475,549 | G/A | — | likely benign |
| rs2472614242 | 3:27,475,577 | A/G | — | uncertain significance |
| rs747582148 | 3:27,475,581 | T/G | — | uncertain significance |
| rs775842812 | 3:27,477,894 | G/C | — | uncertain significance |
| rs60605842 | 3:27,481,041 | A/G | intron variant | — |
| rs200656352 | 3:27,487,615 | G/T | — | — |
| rs55811935 | 3:27,487,916 | T/A | — | — |
| rs2057849380 | 3:27,490,145 | A/G | — | uncertain significance |
| rs756621553 | 3:27,490,225 | C/T | — | uncertain significance |
| rs148308402 | 3:27,490,231 | C/T | — | uncertain significance |
| rs757351887 | 3:27,490,232 | G/A | — | uncertain significance |
| rs1335269777 | 3:27,498,167 | C/T | — | uncertain significance |
| rs450189 | 3:27,522,700 | T/A | — | — |
| rs527663353 | 3:27,525,558 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.