HBQ1
hemoglobin subunit theta 1
Summary
Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs187541509 | 16:229,726 | A/T | upstream gene variant | — |
| rs760288658 | 16:230,496 | C/T | — | uncertain significance |
| rs981274001 | 16:230,532 | A/G | — | likely benign |
| rs939536278 | 16:230,555 | G/C | — | uncertain significance |
| rs2505442988 | 16:230,726 | T/C | — | uncertain significance |
| rs753909539 | 16:230,794 | C/G | — | uncertain significance |
| rs924462090 | 16:230,802 | C/G | — | uncertain significance |
| rs1341391742 | 16:230,834 | G/A | — | uncertain significance |
| rs778280215 | 16:230,838 | G/C | — | uncertain significance |
| rs747380563 | 16:230,840 | C/G | — | uncertain significance |
| rs144961211 | 16:231,021 | C/G | missense variant | — |
| rs2048879740 | 16:231,058 | A/C | — | uncertain significance |
| rs1206154004 | 16:231,060 | A/G | — | uncertain significance |
| rs2048879965 | 16:231,088 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.