034 Vel Blood Group
The Vel blood group system consists of one antigen that is dependent on the expression of SMIM1, a 78 amino acid single pass membrane protein, likely type 2. The protein is encoded by SMIM1, or VEL if analysis is to predict a blood group antigen. In addition to mutations in the coding region, Vel antigen expression is considerably influenced by the rs1175550 SNP genotype. This SNP is located in intron 2, upstream of the coding region.
Reference Info
Gene: SMIM1
Allele: VEL*01
Seq: NG_033869.1
(genomic), NM_001163724.2 (transcript)
Entrez GeneID: 388588
Number of exons: 4
Allele: VEL*01
Seq: NG_033869.1
(genomic), NM_001163724.2 (transcript)
Entrez GeneID: 388588
Number of exons: 4
| Loading Data ... |
| allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| 1:Weak Alleles | Velweak | VEL*01W.01 | c.152T>A | Exon 4 | p.Met51Lys | chr1:3775836 |
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| 0:Antigen Alleles | Vel+ | VEL*01 | ||||||||
| 0:Antigen Alleles | Vel- | VEL*-01 | c.64_80delAGCCTAGGGGCTGTGTC | Exon 3 | p.Ser22Glnfs*? | chr1:3775437 |
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| 1:Weak Alleles | Velweak/ Vel- | VEL*01W.02 | c.152T>G | Exon 4 | p.Met51Arg | chr1:3775836 |
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