present in Gene: TXNL4B;HP
present in Chromosome: 16
Position on Chromosome: 72060409
Alleles of this Variant: T/C
rs104894517 in
TXNL4B;HP gene and
ANHAPTOGLOBINEMIA
PMID 14999562 2004 A novel I247T missense mutation in the haptoglobin 2 beta-chain decreases the expression of the protein and is associated with ahaptoglobinemia.