Ensembl ID:
high mobility group AT-hook 1 [Source:RefSeq peptide;Acc:NP_998333]
Human Orthologue:
Human Description:
high mobility group AT-hook 1 [Source:HGNC Symbol;Acc:5010]
Mouse Orthologues:
Hmga1, Hmga1-rs1
Mouse Descriptions:
high mobility group AT-hook 1 Gene [Source:MGI Symbol;Acc:MGI:96160]
high mobility group AT-hook I, related sequence 1 Pseudogene [Source:MGI Symbol;Acc:MGI:96161]


There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa16984 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
T > C
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028885 Essential Splice Site 61 101 None 5
ENSDART00000131536 Essential Splice Site 60 100 None 5
ENSDART00000132205 Essential Splice Site 61 101 None 5
ENSDART00000137826 Essential Splice Site 61 101 None 5
ENSDART00000139408   None 45 None 2

The following transcripts of ENSDARG00000028335 do not overlap with this mutation:

Genomic Location:
Chromosome 23 (position 3770910)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
Associated Phenotype:
Not determined


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

  • Body mass index: Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (View Study)
  • Height: A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. (View Study)
  • Height: A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. (View Study)
  • Height: Genome-wide association study of height and body mass index in Australian twin families. (View Study)
  • Height: Hundreds of variants clustered in genomic loci and biological pathways affect human height. (View Study)
  • Height: Identification of 15 loci influencing height in a Korean population. (View Study)
  • Height: Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (View Study)
  • Height: Many sequence variants affecting diversity of adult human height. (View Study)
  • Height: Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size. (View Study)

(GWAS data comes from


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