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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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hmbox1a
- Ensembl ID:
- ENSDARG00000027082
- ZFIN ID:
- ZDB-GENE-050913-89
- Description:
- homeobox containing 1a [Source:RefSeq peptide;Acc:NP_001025435]
- Human Orthologue:
- HMBOX1
- Human Description:
- homeobox containing 1 [Source:HGNC Symbol;Acc:26137]
- Mouse Orthologue:
- Hmbox1
- Mouse Description:
- homeobox containing 1 Gene [Source:MGI Symbol;Acc:MGI:2445066]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa14163 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa14163
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
-
Order Allele From ZIRC
Order Allele From EZRC - Mutation:
- A > C
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000030835 | Essential Splice Site | 244 | 441 | 5 | 9 |
- Genomic Location (Zv9):
- Chromosome 17 (position 16145011)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 17 16295839 GRCz11 17 16303772 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- CAGTGTGTCCTCWTGCTTCACCTGAGCTGATGTGATGATTTTTGTGTCTY[A/C]GGTGCGACTCTAGCGATGCGTCCCACACCGATGGCCCTGGAGGACATTGT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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