SNTG1
syntrophin gamma 1
Summary
The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs62515375 | 8:50,949,939 | C/G | — | — |
| rs203914 | 8:51,015,441 | G/A | — | — |
| rs191182263 | 8:51,024,225 | G/A | intron variant | — |
| rs203620 | 8:51,028,100 | C/T | — | — |
| rs11778998 | 8:51,113,409 | A/C | intron variant | — |
| rs7824756 | 8:51,118,559 | T/C | intron variant | — |
| rs764592457 | 8:51,306,814 | G/A | — | uncertain significance |
| rs142596572 | 8:51,314,798 | A/C | — | uncertain significance |
| rs35384568 | 8:51,314,818 | A/C | — | likely benign |
| rs144283676 | 8:51,314,824 | C/T | — | uncertain significance |
| rs777169778 | 8:51,314,825 | G/A | — | uncertain significance |
| rs147780932 | 8:51,314,877 | T/G | — | uncertain significance |
| rs765215455 | 8:51,351,126 | A/G | — | likely benign |
| rs145093612 | 8:51,362,258 | G/A | — | likely benign |
| rs138942717 | 8:51,363,116 | C/T | — | uncertain significance |
| rs1413479636 | 8:51,363,139 | A/G | — | uncertain significance |
| rs142072860 | 8:51,363,147 | T/C | — | likely benign |
| rs2536079438 | 8:51,363,248 | A/T | — | uncertain significance |
| rs138262840 | 8:51,363,287 | G/C | — | likely benign |
| rs13272236 | 8:51,384,987 | A/G | intron variant | — |
| rs310558 | 8:51,412,591 | C/T | intron variant | — |
| rs528778271 | 8:51,415,359 | G/A | — | uncertain significance |
| rs200995970 | 8:51,415,377 | A/G | — | uncertain significance |
| rs141816678 | 8:51,415,396 | G/C | — | uncertain significance |
| rs2536414498 | 8:51,415,406 | T/C | — | likely benign |
| rs765351175 | 8:51,442,763 | A/G | — | uncertain significance |
| rs2094255723 | 8:51,442,793 | C/T | — | uncertain significance |
| rs748623742 | 8:51,442,815 | A/G | — | uncertain significance |
| rs756647274 | 8:51,442,818 | C/G | — | uncertain significance |
| rs34041945 | 8:51,449,321 | A/G | — | benign |
| rs779537168 | 8:51,449,328 | T/G | — | uncertain significance |
| rs746700096 | 8:51,449,330 | G/C | — | likely benign |
| rs147200097 | 8:51,449,352 | G/A | — | likely benign |
| rs754605384 | 8:51,465,626 | G/T | — | uncertain significance |
| rs113805699 | 8:51,465,651 | C/G | — | benign |
| rs2130608504 | 8:51,465,728 | A/G | — | uncertain significance |
| rs144350422 | 8:51,465,733 | G/C | — | uncertain significance |
| rs1303867613 | 8:51,569,476 | A/G | — | uncertain significance |
| rs528679957 | 8:51,569,546 | C/T | — | likely benign |
| rs78726152 | 8:51,571,149 | A/C | — | benign |
| rs370510173 | 8:51,617,163 | A/G | — | uncertain significance |
| rs145454514 | 8:51,617,255 | C/T | — | likely benign |
| rs201831443 | 8:51,617,315 | G/T | — | likely benign |
| rs75754384 | 8:51,620,467 | A/G | — | benign |
| rs199607479 | 8:51,621,494 | A/G | — | uncertain significance |
| rs2537598176 | 8:51,621,516 | T/C | — | uncertain significance |
| rs189682213 | 8:51,621,563 | G/T | — | benign |
| rs376362017 | 8:51,621,569 | T/C | — | likely benign |
| rs11776122 | 8:51,669,796 | A/C | — | — |
| rs10958099 | 8:51,673,736 | G/A | downstream gene variant | — |
| rs12547335 | 8:51,690,823 | C/G | — | — |
| rs2536312573 | 8:51,705,373 | C/T | — | uncertain significance |
| rs774908590 | 8:51,705,393 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.