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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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EPAS1 (2 of 2)
- Ensembl ID:
- ENSDARG00000008697
- Description:
- endothelial PAS domain protein 1 [Source:HGNC Symbol;Acc:3374]
- Human Orthologue:
- EPAS1
- Human Description:
- endothelial PAS domain protein 1 [Source:HGNC Symbol;Acc:3374]
- Mouse Orthologue:
- Epas1
- Mouse Description:
- endothelial PAS domain protein 1 Gene [Source:MGI Symbol;Acc:MGI:109169]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa18133 | Nonsense | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa18133
- 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 > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000024415 | Nonsense | 53 | 842 | 2 | 16 |
- Genomic Location (Zv9):
- Chromosome 12 (position 27312783)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 12 25693771 GRCz11 12 25785131 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AGCTGGCCCATCAGCTACCATTACCCCACAGCATCAGCTCACACCTGGAC[A/T]AAGCCTCTATCATGAGACTGGCTATCAGCTTCCTGYGCACACGCAAGCTC
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Renal cell carcinoma: Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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