029 GIL Blood Group
The GIL blood group system consists of one antigen carried on a multipass membrane glycoprotein aquaporin 3 (AQP3), an aquaglyceroporin. It consists of 292 amino acids and both amino and carboxyl termini are predicted to be intracellular.
Reference Info
Gene: AQP3
Allele: GIL*01. Acceptable: GIL, if inferred by haemagglutination
Seq: NG_007476.1
(genomic), NM_004925.4 (transcript)
Entrez GeneID: 360
Number of exons: 6
Allele: GIL*01. Acceptable: GIL, if inferred by haemagglutination
Seq: NG_007476.1
(genomic), NM_004925.4 (transcript)
Entrez GeneID: 360
Number of exons: 6
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 0:Antigen Alleles | GIL:1 or GIL+ | GIL*01 | ||||||||
| 4:Null Alleles | GIL:-1 or GIL- | GIL*01N.01 | c.710+1G>A | Intron 5 | Alternative splicing [1] | chr9:33442300 |
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