SNTB1
syntrophin beta 1
Summary
Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
Known Variants55 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139912456 | 8:121,551,142 | A/G | — | uncertain significance |
| rs2488009174 | 8:121,551,208 | T/C | — | uncertain significance |
| rs148416297 | 8:121,554,067 | C/T | — | uncertain significance |
| rs371716468 | 8:121,554,085 | G/C | — | uncertain significance |
| rs768449455 | 8:121,554,137 | T/C | — | uncertain significance |
| rs748064595 | 8:121,554,144 | G/A | — | uncertain significance |
| rs375032501 | 8:121,554,214 | G/A | — | uncertain significance |
| rs199549031 | 8:121,561,136 | G/A | — | uncertain significance |
| rs7839488 | 8:121,562,418 | G/A | intron variant | — |
| rs4455882 | 8:121,583,283 | A/T | — | — |
| rs771832700 | 8:121,587,380 | C/T | — | uncertain significance |
| rs758659001 | 8:121,587,447 | T/G | — | uncertain significance |
| rs6469937 | 8:121,610,438 | G/A | intron variant | — |
| rs6986718 | 8:121,635,396 | C/A | intron variant | — |
| rs148294004 | 8:121,644,692 | C/T | — | uncertain significance |
| rs990920258 | 8:121,644,728 | C/A | — | uncertain significance |
| rs751732617 | 8:121,644,731 | T/C | — | uncertain significance |
| rs373258111 | 8:121,644,772 | C/G | — | uncertain significance |
| rs1044712693 | 8:121,644,797 | A/C | — | uncertain significance |
| rs768752496 | 8:121,644,841 | C/T | — | uncertain significance |
| rs532501678 | 8:121,644,854 | C/T | — | uncertain significance |
| rs547745148 | 8:121,644,856 | G/C | — | uncertain significance |
| rs2488222784 | 8:121,644,860 | G/A | — | uncertain significance |
| rs72609833 | 8:121,669,010 | C/A | intron variant | — |
| rs11989782 | 8:121,694,650 | C/G | — | — |
| rs138723707 | 8:121,705,948 | C/T | — | uncertain significance |
| rs960026709 | 8:121,705,955 | C/T | — | uncertain significance |
| rs777177247 | 8:121,705,956 | A/T | — | uncertain significance |
| rs150760552 | 8:121,705,969 | C/T | — | uncertain significance |
| rs143887054 | 8:121,706,035 | G/A | — | uncertain significance |
| rs775666986 | 8:121,706,043 | G/A | — | uncertain significance |
| rs373190531 | 8:121,706,059 | G/A | — | uncertain significance |
| rs376360327 | 8:121,706,064 | G/T | — | uncertain significance |
| rs1199225803 | 8:121,706,070 | G/A | — | uncertain significance |
| rs752413892 | 8:121,706,073 | G/A | — | uncertain significance |
| rs147535244 | 8:121,706,110 | C/G | — | uncertain significance |
| rs138798238 | 8:121,710,185 | G/A | intron variant | — |
| rs138788125 | 8:121,720,617 | G/A | intron variant | — |
| rs58202132 | 8:121,764,521 | C/A | intron variant | — |
| rs117887821 | 8:121,782,028 | C/T | intron variant | — |
| rs535700953 | 8:121,788,514 | G/A | — | — |
| rs10090787 | 8:121,810,549 | T/C | — | association |
| rs377564521 | 8:121,823,573 | C/T | — | uncertain significance |
| rs761683255 | 8:121,823,590 | C/G | — | uncertain significance |
| rs1820428818 | 8:121,823,623 | A/T | — | uncertain significance |
| rs764412862 | 8:121,823,693 | T/C | — | uncertain significance |
| rs769895413 | 8:121,823,753 | G/A | — | uncertain significance |
| rs1004323411 | 8:121,823,795 | C/G | — | uncertain significance |
| rs370781989 | 8:121,823,845 | C/G | — | uncertain significance |
| rs766992193 | 8:121,823,854 | G/C | — | uncertain significance |
| rs145732083 | 8:121,823,875 | C/T | — | uncertain significance |
| rs761112853 | 8:121,823,903 | C/G | — | uncertain significance |
| rs767142813 | 8:121,823,934 | G/T | — | uncertain significance |
| rs753833710 | 8:121,823,948 | G/C | — | uncertain significance |
| rs1386044493 | 8:121,824,047 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.