Gene: ASCL3

Alternate names for this Gene: HASH3|SGN1|bHLHa42

Gene Summary: Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## CDS exon combination :: BG199363.1, SRR1660803.347250.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA2150585 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.4

Description of this Gene: achaete-scute family bHLH transcription factor 3

Type of Gene: protein-coding

rs4909952 in ASCL3 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.