SCAF4
SR-related CTD associated factor 4
Summary
This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
Known Variants113 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs768752418 | 21:33,043,716 | C/T | — | uncertain significance |
| rs140123301 | 21:33,043,717 | G/A | — | likely benign |
| rs2516669952 | 21:33,043,809 | G/A | — | uncertain significance |
| rs1287796012 | 21:33,043,956 | T/A | — | uncertain significance |
| rs1231277400 | 21:33,043,978 | C/G | — | uncertain significance |
| rs753234671 | 21:33,043,980 | C/G | — | uncertain significance |
| rs2516671735 | 21:33,043,999 | A/G | — | uncertain significance |
| rs2049701786 | 21:33,044,027 | G/C | — | uncertain significance |
| rs2516671989 | 21:33,044,029 | G/A | — | uncertain significance |
| rs760940428 | 21:33,044,073 | C/T | — | uncertain significance |
| rs144309308 | 21:33,044,137 | T/C | — | likely benign |
| rs2516673370 | 21:33,044,167 | G/A | — | uncertain significance |
| rs763122050 | 21:33,044,170 | C/G | — | uncertain significance |
| rs766749843 | 21:33,044,175 | C/T | — | uncertain significance |
| rs778645729 | 21:33,044,283 | T/C | — | uncertain significance |
| rs377558052 | 21:33,044,325 | G/A | — | likely benign |
| rs73201506 | 21:33,044,408 | A/G | — | benign |
| rs753776017 | 21:33,044,410 | C/T | — | uncertain significance |
| rs2049721623 | 21:33,044,451 | G/A | — | uncertain significance |
| rs762394023 | 21:33,044,526 | G/A | — | uncertain significance |
| rs2123452479 | 21:33,044,607 | A/G | — | uncertain significance |
| rs1232168019 | 21:33,044,665 | T/A | — | uncertain significance |
| rs771716573 | 21:33,057,386 | C/T | — | uncertain significance |
| rs145531704 | 21:33,057,406 | G/A | — | uncertain significance |
| rs2123498648 | 21:33,057,419 | G/A | — | uncertain significance |
| rs201406878 | 21:33,057,464 | C/T | — | likely benign |
| rs1224081964 | 21:33,057,497 | T/C | — | uncertain significance |
| rs540465862 | 21:33,057,551 | T/C | — | uncertain significance |
| rs143431814 | 21:33,057,720 | T/G | — | likely benign |
| rs2516723779 | 21:33,057,736 | G/T | — | uncertain significance |
| rs2516724533 | 21:33,057,880 | C/A | — | likely pathogenic |
| rs2050103231 | 21:33,057,976 | C/A | — | uncertain significance |
| rs778314236 | 21:33,058,028 | C/T | — | likely benign |
| rs141960252 | 21:33,060,667 | C/T | — | likely benign |
| rs199712831 | 21:33,060,688 | G/C | — | uncertain significance |
| rs2516738022 | 21:33,060,694 | G/A | — | uncertain significance |
| rs2123514599 | 21:33,060,738 | G/A | — | uncertain significance |
| rs1338884823 | 21:33,060,768 | C/T | — | uncertain significance |
| rs2050182643 | 21:33,060,774 | C/T | — | pathogenic |
| rs758968564 | 21:33,063,115 | T/C | — | uncertain significance |
| rs370266812 | 21:33,063,170 | G/A | — | likely benign |
| rs754991194 | 21:33,063,171 | C/G | — | uncertain significance |
| rs143727305 | 21:33,063,223 | T/A | — | uncertain significance |
| rs1330030521 | 21:33,063,242 | T/C | — | uncertain significance |
| rs147226733 | 21:33,064,135 | T/C | — | likely benign |
| rs2516753622 | 21:33,064,186 | G/A | — | uncertain significance |
| rs775503270 | 21:33,064,189 | A/C | — | uncertain significance |
| rs2516753883 | 21:33,064,237 | G/C | — | uncertain significance |
| rs750217820 | 21:33,064,250 | C/T | — | uncertain significance |
| rs2050278981 | 21:33,064,661 | C/G | — | pathogenic |
| rs2516756781 | 21:33,064,741 | A/G | — | uncertain significance |
| rs386352359 | 21:33,064,758 | G/A | — | uncertain significance |
| rs2516760485 | 21:33,065,609 | C/G | — | uncertain significance |
| rs2516760652 | 21:33,065,631 | G/C | — | uncertain significance |
| rs2516760777 | 21:33,065,649 | G/A | — | pathogenic |
| rs2123538435 | 21:33,065,670 | G/A | — | pathogenic |
| rs2050305726 | 21:33,065,697 | G/A | — | pathogenic |
| rs868454222 | 21:33,065,709 | G/A | — | pathogenic |
| rs1357752049 | 21:33,065,715 | T/C | — | uncertain significance |
| rs759250851 | 21:33,065,738 | C/T | — | uncertain significance |
| rs775432821 | 21:33,065,742 | G/A | — | likely pathogenic |
| rs1280277365 | 21:33,065,748 | G/A | — | uncertain significance |
| rs2123543369 | 21:33,066,517 | C/G | — | uncertain significance |
| rs1171796728 | 21:33,067,123 | T/C | — | uncertain significance |
| rs755914155 | 21:33,067,203 | T/G | — | uncertain significance |
| rs2098106647 | 21:33,067,244 | G/T | — | uncertain significance |
| rs145876360 | 21:33,067,293 | C/T | — | likely benign |
| rs2516774500 | 21:33,068,423 | T/C | — | pathogenic |
| rs1229422185 | 21:33,068,440 | G/C | — | likely benign |
| rs2123554143 | 21:33,068,464 | G/A | — | uncertain significance |
| rs1298964786 | 21:33,068,506 | G/C | — | uncertain significance |
| rs2516775373 | 21:33,068,514 | A/G | — | uncertain significance |
| rs2516775394 | 21:33,068,515 | T/G | — | uncertain significance |
| rs2516777715 | 21:33,068,881 | C/A | — | likely pathogenic |
| rs748174835 | 21:33,068,954 | G/C | — | conflicting classifications of pathogenicity |
| rs906130982 | 21:33,068,964 | C/T | — | uncertain significance |
| rs201779077 | 21:33,068,981 | G/A | — | likely benign |
| rs59300999 | 21:33,072,363 | T/C | intron variant | — |
| rs747668522 | 21:33,073,333 | G/C | — | likely benign |
| rs769387537 | 21:33,073,336 | G/A | — | likely benign |
| rs2516796194 | 21:33,073,345 | G/C | — | uncertain significance |
| rs767758010 | 21:33,073,436 | G/C | — | likely benign |
| rs750542872 | 21:33,073,444 | G/C | — | uncertain significance |
| rs539033385 | 21:33,073,488 | A/G | — | likely benign |
| rs73201525 | 21:33,074,050 | A/C | upstream gene variant | — |
| rs2050538888 | 21:33,074,118 | G/A | — | pathogenic |
| rs1217162525 | 21:33,074,130 | C/G | — | uncertain significance |
| rs2123583796 | 21:33,074,225 | G/A | — | uncertain significance |
| rs368215613 | 21:33,074,577 | T/C | — | likely benign |
| rs1474995125 | 21:33,074,599 | T/C | — | uncertain significance |
| rs2516804248 | 21:33,074,611 | C/T | — | uncertain significance |
| rs2050589119 | 21:33,076,077 | C/A | — | pathogenic |
| rs2516811028 | 21:33,076,105 | A/C | — | likely pathogenic |
| rs2516811059 | 21:33,076,116 | T/C | — | uncertain significance |
| rs2123594070 | 21:33,076,137 | A/G | — | uncertain significance |
| rs2516811394 | 21:33,076,173 | G/C | — | uncertain significance |
| rs2516811408 | 21:33,076,179 | G/A | — | uncertain significance |
| rs2516811491 | 21:33,076,187 | C/T | — | uncertain significance |
| rs2516811789 | 21:33,076,230 | C/A | — | likely pathogenic |
| rs2516811898 | 21:33,076,240 | C/T | — | likely pathogenic |
Showing 100 of 113 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.