Ensembl ID:
Human Orthologues:
Human Descriptions:
ATP-binding cassette, sub-family A (ABC1), member 1 [Source:HGNC Symbol;Acc:29]
ATP-binding cassette, sub-family A (ABC1), member 7 [Source:HGNC Symbol;Acc:37]
Mouse Orthologues:
Abca1, Abca7
Mouse Descriptions:
ATP-binding cassette, sub-family A (ABC1), member 1 Gene [Source:MGI Symbol;Acc:MGI:99607]
ATP-binding cassette, sub-family A (ABC1), member 7 Gene [Source:MGI Symbol;Acc:MGI:1351646]


There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa34257 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
We currently estimate that this allele will be available during 2017.
G > A
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000122874 Essential Splice Site 119 331 4 8
Genomic Location (Zv9):
Chromosome 7 (position 76214808)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 72987529
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
Flanking Sequence:
Associated Phenotype:
Not determined


This gene's human homologue has been identified in the following GWAS studies:

  • Alzheimer's disease: Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. (View Study)
  • Alzheimer's disease (late onset): Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. (View Study)
  • Coronary heart disease: Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (View Study)
  • Metabolic syndrome: Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. (View Study)
  • Metabolite levels: Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (View Study)
  • Metabolite levels: Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. (View Study)
  • Myopia (pathological): A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population. (View Study)
  • Total ventricular volume: Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (View Study)
  • Triglycerides: Biological, clinical and population relevance of 95 loci for blood lipids. (View Study)
  • Triglycerides: Common variants at 30 loci contribute to polygenic dyslipidemia. (View Study)
  • Triglycerides: Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (View Study)
  • Triglycerides: Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (View Study)
  • Triglycerides: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (View Study)
  • Triglycerides: Newly identified loci that influence lipid concentrations and risk of coronary artery disease. (View Study)
  • Triglycerides: Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)


If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below: