MS4A3
membrane spanning 4-domains A3
Summary
This gene encodes a member of the membrane-spanning 4A gene family. Members of this 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. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs916530750 | 11:59,828,663 | G/T | — | uncertain significance |
| rs748726095 | 11:59,828,694 | G/C | — | uncertain significance |
| rs374412033 | 11:59,828,781 | G/C | — | uncertain significance |
| rs1855292467 | 11:59,829,962 | G/C | — | uncertain significance |
| rs376514815 | 11:59,829,966 | T/A | — | uncertain significance |
| rs758757790 | 11:59,830,014 | A/G | — | uncertain significance |
| rs554659498 | 11:59,830,041 | C/T | — | likely benign |
| rs775092822 | 11:59,831,751 | C/A | — | uncertain significance |
| rs769176627 | 11:59,834,512 | T/G | — | uncertain significance |
| rs777496003 | 11:59,834,513 | C/G | — | uncertain significance |
| rs3016834 | 11:59,835,242 | C/A | — | — |
| rs1399303562 | 11:59,837,054 | T/C | — | uncertain significance |
| rs142101861 | 11:59,837,092 | G/A | — | likely benign |
| rs770173506 | 11:59,837,108 | T/C | — | uncertain significance |
| rs549070318 | 11:59,837,123 | A/G | — | uncertain significance |
| rs2298585 | 11:59,837,192 | C/T | regulatory region variant | — |
| rs1452148190 | 11:59,837,699 | C/T | — | uncertain significance |
| rs474951 | 11:59,838,621 | T/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.