036 Augustine Blood Group
The Augustine (AUG) blood group system consists of two antigens carried on a multipass membrane glycoprotein equilibrative nucleoside transporter 1 (ENT1). It consists of 456 amino acids with an intracellular amino terminus and extracellular carboxyl terminus
Reference Info
Gene: SLC29A1
Allele: AUG*01
Seq: NG_042893.1
(genomic), NM_001304463.1 (transcript)
Entrez GeneID: 2030
Number of exons: 13
Allele: AUG*01
Seq: NG_042893.1
(genomic), NM_001304463.1 (transcript)
Entrez GeneID: 2030
Number of exons: 13
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 0:Antigen Alleles | At(a+) AUG:1,2,-3 | AUG*01 | ||||||||
| 4:Null Alleles | At(a-) AUG: -1,-2 | AUG*01N | c.589+1G>C | Intron 6 | p.Ser197fs | chr6:44230482 |
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| 0:Antigen Alleles | At(a-) AUG:1,-2,-3 | AUG*02 | c.1171G>A | Exon 12 | p.Glu391Lys | chr6:44232918 |
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| 0:Antigen Alleles | AUG:1,2,3† | AUG*03 | c.1159A>C | Exon 12 | p.Thr387Pro | chr6:44232906 |
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| 0:Antigen Alleles | AUG:4 (ATAM+) | AUG*04 | c.242A>G | Exon 4 | p. Asn81Ser | chr6:44229719 |
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