ZMP
EPAS1 (2 of 2)
Ensembl ID:
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 are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa18133 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18133
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
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)
KASP Sequence:
AGCTGGCCCATCAGCTACCATTACCCCACAGCATCAGCTCACACCTGGAC[A/T]AAGCCTCTATCATGAGACTGGCTATCAGCTTCCTGYGCACACGCAAGCTC
Long Flanking Sequence:
TTGTAACATTTTGTTTGTTTGGTTACTGTGTGAGTAAGGCTTTGTTTTTGTTAATGGAAAATACACTTTTTAGCTCATGAAACTTCTACAAAATGAAGACAAAAATAATTATTTAAATTATTATTTTTATGCTTTGCTTTGTTTTTGTTAATAGAAAATATAAGGTTTAGGTTATGAAACTTCCATAAAATGAAAACAAAATTATTTGTTTTAATTATTATTTTTATACTTTGTTTTTGTTAGTAGAAAATACACTTTTAACTTATGAAACTTCCATAAATTGAAAAAAAAAATTATTACTTTGCTTCTAACAATAAAATGCATTCCAAATATAACAAAATATGCATATTCAGCCTCTTCTGTTTTGCAGGCACCCTTCAGAAAGGCGTAAGGAGAAGTCTCGTGATGCGGCGCGCTGCAGGCGCAGTAAAGAGACAGAGGTGTTTTATGAGCTGGCCCATCAGCTACCATTACCCCACAGCATCAGCTCACACCTGGAC[A/T]AAGCCTCTATCATGAGACTGGCTATCAGCTTCCTGCGCACACGCAAGCTCTTCAGCTCAGGTACACCATTGCACAACACGCTTCAGATACATCTGATCTCTCAGCATTCTGGCTATGTGTTTTTTAAATCTTATTATTTGTTTGTAATTAGCCTGTTTAAGCTTATTTCTGACAACTGCGCATGGAAACATTTGGTCTTGGCGGAATAGACCTGCTTTGGTGCAAAGCAAGGGCCGTGACTTGCTACTACCGGAATATTTATAAACATGCTCTCTGAGAACCCACTGCTGCTGCAAAGTTAACATAGATGTAACCCTGTAGCCAAACTATACACAGGTGGAGCTGGGGTGGAGGAGGGTATCAGAAAATGACCGCAGTTTGCTAGTGCAAATAACACTGAGGTACTTAAATTTTGATGAGCAAGCTCATTGGCTGTTTACAGTACATGAAACACACAGTACAGTATGTGAAATGCAGGGAACATTTAGAACATGTGAAAC
Associated Phenotype:
Not determined