HBM
hemoglobin subunit mu
Summary
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7194649 | 16:215,106 | C/A | coding sequence variant | — |
| rs1485843157 | 16:216,052 | G/A | — | uncertain significance |
| rs565889459 | 16:216,057 | G/A | — | uncertain significance |
| rs536488812 | 16:216,058 | A/G | — | uncertain significance |
| rs148323035 | 16:216,090 | T/C | splice region variant | — |
| rs2505421384 | 16:216,271 | T/C | — | uncertain significance |
| rs1254368291 | 16:216,344 | G/C | — | uncertain significance |
| rs200995285 | 16:216,367 | G/T | missense variant | — |
| rs1477769567 | 16:216,451 | G/T | — | uncertain significance |
| rs141494605 | 16:216,593 | T/C | synonymous variant | — |
| rs750003435 | 16:216,623 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.