013 Scianna Blood Group
The Scianna blood group system consists of 7 antigens carried on a single pass type I membrane glycoprotein (ERMAP) with 1 IgSF domain and an intracellular B30.2 domain. It consists of 475 amino acids and has a leader sequence of 29 amino acids, which is cleaved from the membrane bound protein.
Reference Info
Gene: ERMAP
Allele: SC*01
Seq: NG_008749.1
(genomic), NM_001017922.1 (transcript)
Entrez GeneID: 114625
Number of exons: 11
Allele: SC*01
Seq: NG_008749.1
(genomic), NM_001017922.1 (transcript)
Entrez GeneID: 114625
Number of exons: 11
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 0:Antigen Alleles | SC:1 or Sc1+ | SC*01 | ||||||||
| 4:Null Alleles | SC:-3 or SC:-1-2-3 | SC*01N.01 | c.307_308delGA | Exon 4 | p.Asp103Cysfs*12 | chr1:42830989 |
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| 4:Null Alleles | SC:-3 or SC:-1-2-3 | SC*01N.02 | c.994C>T | Exon 12 | p.Arg332* | chr1:42842798 |
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| 0:Antigen Alleles | SC:2 or Sc2+ | SC*02 | c.169G>A | Exon 4 | p.Gly57Arg | chr1:42830851 |
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| 0:Antigen Alleles | SC:4 or Rd+ | SC*01.04 | c.178C>G | Exon 4 | p.Pro60Ala | chr1:42830860 |
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| 0:Antigen Alleles | SC:-5 or STAR- | SC*01.-05 | c.139G>A | Exon 4 | p.Glu47Lys | chr1:42830821 |
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| 0:Antigen Alleles | SC:-6 or SCER- | SC*01.-06 | c.242G>A | Exon 4 | p.Arg81Gln | chr1:42830924 |
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| 0:Antigen Alleles | SC:-7 or SCAN- | SC*01.-07 | c.103G>A | Exon 4 | p.Gly35Ser | chr1:42830785 |
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