ZMP
epas1b
Ensembl ID:
ZFIN ID:
Description:
endothelial PAS domain-containing protein 1 [Source:RefSeq peptide;Acc:NP_001034895]
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 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa814 | Nonsense | Available for shipment | Available now |
sa35421 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa814
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000080382 | Nonsense | 654 | 834 | 12 | 16 |
ENSDART00000123836 | Nonsense | 653 | 833 | 13 | 17 |
Genomic Location (Zv9):
Chromosome 13 (position 7749270)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 8053790 |
GRCz11 | 13 | 8385813 |
KASP Assay ID:
554-0718.1 (used for ordering genotyping assays)
KASP Sequence:
TACCCAGCAAGGCTGGAATGATGGATCCTTTAGCTGCAAAGCGCTCTTGC[C/T]AAGGCATGCCAGCAAATCGAATGGCACCTTTTATGCAAAGGTAAGTGTGC
Long Flanking Sequence:
CTTTCAGTGTTGATATGTAATGCAAATGACTGGTGTTTCATGCCTGCTTTTTCTGACCCCCCTCCATCACCTTTCAGACTGACTTGAGTGATCTGGACTTGGAGACACTGGCTCCCTATATCCCCATGGATGGTGAGGATTTCCAGCTCAATCCCATCTGTCCGGAAGAGCCGCCATCTGAGATTGGAACCCTGGGAACCAACCAGCAGTGCTTCAGCAACATCACAAGCCTCTTCCAACCCTTGAGTTCACCTTCAGCAGCTCATTACCAGCCCAAAATGAGTTCAGGAGGGGACAAGCAGAACATCAATGGAGGCTCTGTGGAGTCATGGCCACCTGTTCCTTACAGCAGGGATCCCATGCAGATGCCTCCATACCATGATCCCGCCAGCACACCGCTGTCCTCAATGGGAGGGCGTCAGAATCTCCAATGGCCGCCCGACCCTCCTTTACCCAGCAAGGCTGGAATGATGGATCCTTTAGCTGCAAAGCGCTCTTGC[C/T]AAGGCATGCCAGCAAATCGAATGGCACCTTTTATGCAAAGGTAAGTGTGCATGTTACTTGGTGTTAGTTTTGGTTCATTGTTCAGTTTAAAAATGCTGCTGTCTTTGAATTTGCGTTGAATGACAACGTATTTGTTTCACAGGCCTATGGAGAACTTTGTGCAGAACTACAGAGATACAAGTCCAGCTCGACTTGCTCTTGCTAACAGTTTCAAACGCTCATTCTCACAGATGGCCATGGTTTGTTCTTATTTCATTTTAATAATGTTTCATAATCTTACTTTCTTGCTCTATTTTGTTTAAATGCAGCCTTAGAGAACATAAGAGACCTGTGGAAAAAAAGCTATACGAGTTTGAAAGCTATGCTTATCAGAACATATCTGTTTAACCGTTTTACAAAGAAAATCAGTTAAATTTAAGTTGGTCAATTGCCAAAGAGTCATCCCAGTAATGTAATTGTATTTATAGAAGAAGCTGTATTAATATTATTAATTGCATCTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35421
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000080382 | Essential Splice Site | 667 | 834 | 12 | 16 |
ENSDART00000123836 | Essential Splice Site | 666 | 833 | 13 | 17 |
Genomic Location (Zv9):
Chromosome 13 (position 7749229)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 8053749 |
GRCz11 | 13 | 8385772 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGCTCTTGCCAAGGCATGCCAGCAAATCGAATGGCACCTTTTATGCAAAG[G/A]TAAGTGTGCATGTTACTTGGTGTTAGTTTTGGTTCATTGTTCAGTTTAAA
Long Flanking Sequence:
GCCTGCTTTTTCTGACCCCCCTCCATCACCTTTCAGACTGACTTGAGTGATCTGGACTTGGAGACACTGGCTCCCTATATCCCCATGGATGGTGAGGATTTCCAGCTCAATCCCATCTGTCCGGAAGAGCCGCCATCTGAGATTGGAACCCTGGGAACCAACCAGCAGTGCTTCAGCAACATCACAAGCCTCTTCCAACCCTTGAGTTCACCTTCAGCAGCTCATTACCAGCCCAAAATGAGTTCAGGAGGGGACAAGCAGAACATCAATGGAGGCTCTGTGGAGTCATGGCCACCTGTTCCTTACAGCAGGGATCCCATGCAGATGCCTCCATACCATGATCCCGCCAGCACACCGCTGTCCTCAATGGGAGGGCGTCAGAATCTCCAATGGCCGCCCGACCCTCCTTTACCCAGCAAGGCTGGAATGATGGATCCTTTAGCTGCAAAGCGCTCTTGCCAAGGCATGCCAGCAAATCGAATGGCACCTTTTATGCAAAG[G/A]TAAGTGTGCATGTTACTTGGTGTTAGTTTTGGTTCATTGTTCAGTTTAAAAATGCTGCTGTCTTTGAATTTGCGTTGAATGACAACGTATTTGTTTCACAGGCCTATGGAGAACTTTGTGCAGAACTACAGAGATACAAGTCCAGCTCGACTTGCTCTTGCTAACAGTTTCAAACGCTCATTCTCACAGATGGCCATGGTTTGTTCTTATTTCATTTTAATAATGTTTCATAATCTTACTTTCTTGCTCTATTTTGTTTAAATGCAGCCTTAGAGAACATAAGAGACCTGTGGAAAAAAAGCTATACGAGTTTGAAAGCTATGCTTATCAGAACATATCTGTTTAACCGTTTTACAAAGAAAATCAGTTAAATTTAAGTTGGTCAATTGCCAAAGAGTCATCCCAGTAATGTAATTGTATTTATAGAAGAAGCTGTATTAATATTATTAATTGCATCTTTGCATTATTATTTATTCAAGCACAGTAAAATATGCTAAGAC
Associated Phenotype:
Not determined