030 RHAG Blood Group
The RHAG blood group system consists of three antigens carried on a multipass membrane glycoprotein called RhAG (Rhassociated glycoprotein; aka CD241). It consists of 409 amino acids and both amino and carboxyl termini are predicted to be intracellular.
Reference Info
Gene: RHAG
Allele: RHAG*01
Seq: NG_011704.1 (genomic), NM_000324.2 (transcript)
Entrez GeneID: 6005
Number of exons: 10
Allele: RHAG*01
Seq: NG_011704.1 (genomic), NM_000324.2 (transcript)
Entrez GeneID: 6005
Number of exons: 10
Loading Data ... |
allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
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0:Antigen Alleles | RHAG:4 | obsolete as of 2018, PMID: 30421425 | c.808G>A | Exon 6 | p.Val270Ile | chr6:49612534 | ||||
4:Null Alleles | Rhnull | RHAG*01N.01 | c.154_157delinsGA | Exon 1 | p.Pro52Aspfs*57 | chr6:49636659 |
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2:Mod Alleles | Rhmod | RHAG*01M.01 | c.1183delA | Exon 9 | p.Asn395Thrfs*68 | chr6:49606877 |
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0:Antigen Alleles | RHAG:1 or Duclos+ | RHAG*01 | ||||||||
0:Antigen Alleles | RHAG:-1 or Duclos- | RHAG*-01 | c.316C>G | Exon 2 | p.Gln106Glu | chr6:49619204 | ||||
4:Null Alleles | Rhnull | RHAG*01N.02 | c.1086delA | Exon 8 | p.Ala363Leufs*15 | chr6:49607202 |
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0:Antigen Alleles | RHAG:2 or Ol(a+) | RHAG*02 | c.680C>T | Exon 5 | p.Ser227Leu | chr6:49614814 |
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2:Mod Alleles | Rhmod | RHAG*01M.02 | c.3G>T | Exon 1 | p.Arg2_Met8del | chr6:49636810 | ||||
4:Null Alleles | Rhnull | RHAG*01N.03 | c.157+1G>A | Intron 1 | Alternative splicing | chr6:49636655 | ||||
0:Antigen Alleles | RHAG:-3 or DSLK- | RHAG*-03 | c.490A>C | Exon 3 | p.Lys164Gln | chr6:49618070 | ||||
2:Mod Alleles | Rhmod | RHAG*01M.03 | c.236G>A | Exon 2 | p.Ser79Asn | chr6:49619284 | ||||
2:Mod Alleles | Rhmod | RHAG*01M.04 | c.269G>T | Exon 2 | p.Gly90Val | chr6:49619251 |
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4:Null Alleles | Rhnull | RHAG*01N.04 | c.945+1G>A | Intron 6 | Alternative splicing | chr6:49612396 |
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4:Null Alleles | Rhnull | RHAG*01N.05 | c.946-1G>A | Intron 6 | Alternative splicing | chr6:49611146 |
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2:Mod Alleles | Rhmod | RHAG*01M.05 | c.398T>C | Exon 3 | p.Leu133Pro | chr6:49618162 |
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2:Mod Alleles | Rhmod | RHAG*01M.06 | c.560G>A | Exon 4 | p.Gly187Asp | chr6:49615704 |
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4:Null Alleles | Rhnull | RHAG*01N.06 | c.946-1G>T | Intron 6 | Alternative splicing | chr6:49611146 |
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2:Mod Alleles | Rhmod | RHAG*01M.07 | c.1195G>T | Exon 9 | p.Asp399Tyr | chr6:49606865 |
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4:Null Alleles | Rhnull | RHAG*01N.07 | c.1067+1G>A | Intron 7 | Alternative splicing | chr6:49611023 |
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2:Mod Alleles | Rhmod | RHAG*01M.08 | c.182T>G | Exon 2 | p.Ile61Arg | chr6:49619338 |
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4:Null Alleles | Rhnull | RHAG*01N.08 |
c.808G>A c.838G>A |
Exon 6
Exon 6 |
p.Val270Ile p.Gly280Arg |
chr6:49612534 chr6:49612504 |
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2:Mod Alleles | Rhmod | RHAG*01M.09 | c.194T>C | Exon 2 | p.Phe65Ser | chr6:49619326 |
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4:Null Alleles | Rhnull | RHAG*01N.09 | c.836G>A | Exon 6 | p.Gly279Glu | chr6:49612506 | ||||
2:Mod Alleles | Rhmod | RHAG*01M.10 | c.572G>A | Exon 4 | p.Arg191Gln | chr6:49615692 | ||||
4:Null Alleles | Rhnull | RHAG*01N.10 | c.1094T>G | Exon 8 | p.Leu365Arg | chr6:49607194 |
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2:Mod Alleles | Rhmod | RHAG*01M.11 | c.241G>C | Exon 2 | p.Gly81Arg | chr6:49619279 |
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4:Null Alleles | Rhnull | RHAG*01N.11 | c.1139G>T | Exon 9 |
p.Gly380Val Alternative splicing |
chr6:49606921 |
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4:Null Alleles | Rhnull | RHAG*01N.12 | c.353C>T | Exon 3 | p.Ala118Glu | chr6:49618207 |
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4:Null Alleles | Rhnull | RHAG*01N.13 | c.1003G>A | Exon 7 | p.Gly335Ser | chr6:49611088 |
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4:Null Alleles | Rhnull | RHAG*01N.14 | c.946-2A>G | Intron 6 | Alternative splicing | chr6:49611147 | ||||
4:Null Alleles | Rhnull | RHAG*01N.15 | c.(?_-62)_(*638_?)del Gene deletion | p.0 | ||||||
4:Null Alleles | Rhnull | RHAG*01N.16 | c.310C>T | Exon 2 | p.Gln104* | chr6:49619210 | ||||
4:Null Alleles | Rhnull | RHAG*01N.17 | c.640+3del14 | Exon 4 | Alternative splicing | chr6:49615624 |
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4:Null Alleles | Rhnull | RHAG*01N.18 | c.790C>T | Exon 5 | p.Arg263* | chr6:49614704 |
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