MS4A6A
membrane spanning 4-domains A6A
Summary
This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs610932 | 11:59,939,307 | T/C | — | — |
| rs143440580 | 11:59,940,271 | A/C | 3 prime UTR variant | — |
| rs138650483 | 11:59,940,500 | C/T | missense variant | — |
| rs767302691 | 11:59,940,544 | G/A | — | likely benign |
| rs7232 | 11:59,940,599 | T/A | missense variant | — |
| rs780600163 | 11:59,942,990 | G/T | — | uncertain significance |
| rs2278867 | 11:59,943,109 | A/G | — | — |
| rs183204829 | 11:59,943,683 | C/T | regulatory region variant | — |
| rs72918674 | 11:59,944,580 | C/T | intron variant | — |
| rs7946992 | 11:59,944,810 | T/C | intron variant | — |
| rs1368769298 | 11:59,947,311 | G/C | — | uncertain significance |
| rs1437204813 | 11:59,947,329 | G/A | — | uncertain significance |
| rs1258408007 | 11:59,947,424 | C/A | — | uncertain significance |
| rs17602572 | 11:59,948,374 | C/G | intron variant | — |
| rs1857138343 | 11:59,949,092 | G/T | — | uncertain significance |
| rs539896615 | 11:59,949,093 | G/T | — | uncertain significance |
| rs766897573 | 11:59,949,164 | C/T | — | uncertain significance |
| rs141125435 | 11:59,949,170 | T/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.