C177190Level 4
RBM8A wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human RBM8A wild-type allele is located in the vicinity of 1q21.1 and is approximately 10 kb in length. This allele, which encodes RNA-binding protein 8A, plays a role in messenger RNA splicing and nonsense mediated decay. Gene deletion or mutations in non-coding sequences of the gene are associated with thrombocytopenia-absent radius syndrome.
**Synonyms:** - BOV-1A - BOV-1B - BOV-1C - Binder of OVCA1 Gene - C1DELq21.1 - DEL1q21.1 - MDS014 - RBM8 - RBM8B - RNA Binding Motif Protein 8A wt Allele - TAR - Y14 - ZNRP - ZRNP1
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Cross-system equivalences0
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