025 Raph Blood Group
The Raph blood group system consists of one antigen (MER2) carried on a multipass membrane glycoprotein CD151 of the tetraspanin family. It consists of 253 amino acids and both amino and carboxyl termini are predicted to be intracellular. The null phenotype is associated with renal failure.
Reference Info
Gene: CD151
Allele: RAPH*01. Acceptable: MER2 if inferred by haemagglutination
Seq: NG_007478.1
(genomic), NM_004357.4 (transcript)
Entrez GeneID: 977
Number of exons: 8
Allele: RAPH*01. Acceptable: MER2 if inferred by haemagglutination
Seq: NG_007478.1
(genomic), NM_004357.4 (transcript)
Entrez GeneID: 977
Number of exons: 8
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 4:Null Alleles | RAPH:-1 or MER2- | RAPH*01N.01 | c.382_383insG | Exon 6 | p.Asp128Glyfs*13 | chr11:837280 |
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| 0:Antigen Alleles | RAPH:1 or MER2+ | RAPH*01 | ||||||||
| 0:Antigen Alleles | RAPH:-1 or MER2- | RAPH*-01.01 | c.511C>T | Exon 7 | p.Arg171Cys | chr11:837514 |
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| 0:Antigen Alleles | RAPH:-1 or MER2- | RAPH*-01.02 | c.533G>A | Exon 7 | p.Arg178His | chr11:837536 |
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| 0:Antigen Alleles | RAPH:-1 or MER2- | RAPH*−01.03 | c.494G>A | Exon 7 | p.Arg165Gln | chr11:837497 |
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