GC
GC vitamin D binding protein
Summary
The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Known Variants72 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4588 | 4:71,742,666 | C/A | missense variant | benign |
| rs575249750 | 4:72,607,444 | T/C | — | — |
| rs2070741 | 4:72,607,678 | T/G | intron variant | — |
| rs705117 | 4:72,608,115 | C/T | intron variant | — |
| rs2282679 | 4:72,608,383 | T/G | intron variant | — |
| rs1491710 | 4:72,609,094 | A/C | intron variant | — |
| rs3755967 | 4:72,609,398 | C/A | — | — |
| rs842999 | 4:72,611,690 | G/T | — | — |
| rs138541816 | 4:72,613,631 | A/G | intron variant | — |
| rs705120 | 4:72,614,140 | A/C | intron variant | — |
| rs2298850 | 4:72,614,267 | G/T | — | — |
| rs11723621 | 4:72,615,362 | A/G | intron variant | — |
| rs843005 | 4:72,616,327 | C/T | intron variant | — |
| rs560384646 | 4:72,616,618 | A/C | — | — |
| rs222040 | 4:72,616,932 | G/A | intron variant | — |
| rs143559418 | 4:72,616,993 | C/T | intron variant | — |
| rs1352846 | 4:72,617,775 | A/C | — | — |
| rs747944744 | 4:72,618,246 | A/C | — | uncertain significance |
| rs763308955 | 4:72,618,263 | T/G | — | uncertain significance |
| rs2475817708 | 4:72,618,264 | T/A | — | pathogenic |
| rs1295819326 | 4:72,618,288 | A/G | — | uncertain significance |
| rs9016 | 4:72,618,296 | T/A | missense variant | — |
| rs3737553 | 4:72,618,297 | G/A | — | benign |
| rs754506044 | 4:72,618,310 | C/T | — | likely benign |
| rs7041 | 4:72,618,334 | A/C | missense variant | benign |
| rs137942674 | 4:72,618,357 | G/T | — | benign |
| rs1288936818 | 4:72,620,131 | T/A | — | uncertain significance |
| rs117492633 | 4:72,620,808 | T/C | — | likely benign |
| rs200641845 | 4:72,620,895 | T/A | — | — |
| rs222035 | 4:72,621,674 | T/G | downstream gene variant | — |
| rs771656455 | 4:72,622,444 | G/A | — | uncertain significance |
| rs4752 | 4:72,622,566 | A/G | synonymous variant | — |
| rs41265647 | 4:72,622,601 | T/C | — | benign |
| rs756799477 | 4:72,622,621 | T/C | — | uncertain significance |
| rs761456392 | 4:72,623,779 | C/G | — | uncertain significance |
| rs182805109 | 4:72,623,829 | A/G | — | uncertain significance |
| rs10488854 | 4:72,624,135 | C/T | downstream gene variant | — |
| rs565277381 | 4:72,625,772 | T/G | — | — |
| rs191472623 | 4:72,626,023 | C/A | upstream gene variant | — |
| rs2276461 | 4:72,628,969 | G/A | upstream gene variant | — |
| rs202086517 | 4:72,629,118 | T/C | — | likely benign |
| rs111261486 | 4:72,629,139 | C/T | — | likely benign |
| rs1223995877 | 4:72,629,173 | C/T | — | uncertain significance |
| rs765263877 | 4:72,629,199 | T/A | — | uncertain significance |
| rs140278474 | 4:72,629,574 | T/C | — | uncertain significance |
| rs144903654 | 4:72,629,629 | A/G | — | benign |
| rs567469821 | 4:72,630,809 | C/A | — | — |
| rs116134435 | 4:72,631,182 | G/A | — | uncertain significance |
| rs201967659 | 4:72,631,194 | T/C | — | uncertain significance |
| rs58801122 | 4:72,631,214 | G/A | — | benign |
| rs2475847501 | 4:72,631,224 | A/T | — | uncertain significance |
| rs36039552 | 4:72,631,340 | C/T | — | benign |
| rs566666266 | 4:72,634,034 | T/A | — | uncertain significance |
| rs372964536 | 4:72,634,065 | C/T | — | uncertain significance |
| rs746003171 | 4:72,634,112 | G/C | — | uncertain significance |
| rs222016 | 4:72,634,975 | G/A | intron variant | — |
| rs2475855868 | 4:72,635,076 | G/T | — | likely benign |
| rs222020 | 4:72,636,272 | C/T | intron variant | — |
| rs16847015 | 4:72,638,824 | C/T | — | — |
| rs3775150 | 4:72,640,750 | T/C | — | — |
| rs1155563 | 4:72,643,488 | T/C | intron variant | — |
| rs222026 | 4:72,643,760 | A/T | intron variant | — |
| rs222029 | 4:72,644,962 | G/A | intron variant | — |
| rs2298849 | 4:72,648,851 | A/G | intron variant | — |
| rs1387121850 | 4:72,649,714 | G/C | — | uncertain significance |
| rs150842455 | 4:72,649,726 | C/T | — | likely benign |
| rs3733359 | 4:72,649,774 | G/A | splice region variant | — |
| rs16847024 | 4:72,650,679 | C/T | intron variant | — |
| rs843010 | 4:72,656,422 | C/T | intron variant | — |
| rs568581132 | 4:72,662,628 | T/C | — | — |
| rs74500260 | 4:72,663,435 | A/G | intron variant | — |
| rs113586460 | 4:72,663,471 | A/G | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.