ABO > ABO*O.01.40
Allele Information
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Phenotypes
A
B
A,B
A1
Genetic Changes
| nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
|---|---|---|---|---|---|---|---|
| c.106G>T | p.Val36Phe | Exon 3 |
|
chr9:136,136,774 | chr9:133,261,358 |
|
|
| c.188G>A | p.Arg63His | Exon 4 |
|
chr9:136,135,240 | chr9:133,259,824 |
|
|
| c.189C>T | Exon 4 |
|
chr9:136,135,239 | chr9:133,259,823 |
|
||
| c.261delG | p.Thr88Profs*31 | Exon 6 |
|
chr9:136,132,909 | chr9:133,257,493 |
|
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| c.297A>G | Exon 6 |
|
chr9:136,132,873 | chr9:133,257,457 |
|
||
| c.646T>A | p.Phe216Ile | Exon 7 |
|
chr9:136,131,472 | chr9:133,256,056 |
|
|
| c.681G>A | Exon 7 |
|
chr9:136,131,437 | chr9:133,256,021 |
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||
| c.829G>A | p.Val277Met | Exon 7 |
|
chr9:136,131,289 | chr9:133,255,873 |
|
Sequence
None
Publication
None