Gene: LOC100506403

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.12

Description of this Gene: uncharacterized LOC100506403

Type of Gene: ncRNA

Gene: RUNX1

Alternate names for this Gene: AML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha

Gene Summary: Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.12

Description of this Gene: RUNX family transcription factor 1

Type of Gene: protein-coding

rs150498232 in LOC100506403;RUNX1 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs73197346 in LOC100506403;RUNX1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.