Ensembl ID:
ZDB-GENE-030131-7722, ZDB-GENE-090501-3
hypothetical protein LOC793447 [Source:RefSeq peptide;Acc:NP_001096600]
Human Orthologues:
Human Descriptions:
hemoglobin, beta [Source:HGNC Symbol;Acc:4827]
hemoglobin, delta [Source:HGNC Symbol;Acc:4829]
hemoglobin, epsilon 1 [Source:HGNC Symbol;Acc:4830]
hemoglobin, gamma A [Source:HGNC Symbol;Acc:4831]
hemoglobin, gamma G [Source:HGNC Symbol;Acc:4832]
Mouse Orthologues:
Gm5736, Hbb-b1, Hbb-b2, Hbb-bh1, Hbb-y
Mouse Descriptions:
hemoglobin beta, bh2 Gene [Source:MGI Symbol;Acc:MGI:96025]
hemoglobin Y, beta-like embryonic chain Gene [Source:MGI Symbol;Acc:MGI:96027]
hemoglobin Z, beta-like embryonic chain Gene [Source:MGI Symbol;Acc:MGI:96024]
hemoglobin, beta adult major chain Gene [Source:MGI Symbol;Acc:MGI:96021]
hemoglobin, beta adult minor chain Gene [Source:MGI Symbol;Acc:MGI:96022]


There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa26160 Essential Splice Site Mutation detected in F1 DNA During 2018

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 2018.
T > G
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128380 Essential Splice Site 31 147 None 3

The following transcripts of ENSDARG00000090689 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 55974484)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 54859645
GRCz10 3 54868210
GRCz11 3 55114247
GRCz11 3 55122812
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:

  • Beta thalassemia/hemoglobin E disease: A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. (View Study)
  • F-cell distribution: A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. (View Study)
  • Fetal hemoglobin levels: Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. (View Study)
  • HbA2 levels: HbA2 levels in normal adults are influenced by two distinct genetic mechanisms. (View Study)
  • Inflammatory biomarkers: A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. (View Study)
  • Malaria: Genome-wide and fine-resolution association analysis of malaria in West Africa. (View Study)
  • Malaria: Genome-wide association study indicates two novel resistance loci for severe malaria. (View Study)
  • Platelet counts: GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. (View Study)

(GWAS data comes from


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