ZMP
LOC560542
Ensembl ID:
Human Orthologue:
EPN2
Human Description:
epsin 2 [Source:HGNC Symbol;Acc:18639]
Mouse Orthologue:
Epn2
Mouse Description:
epsin 2 Gene [Source:MGI Symbol;Acc:MGI:1333766]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa20093 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20093
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000055176 | Essential Splice Site | 400 | 590 | 6 | 8 |
Genomic Location (Zv9):
Chromosome 3 (position 39678311)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 39541671 |
| GRCz11 | 3 | 39683529 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGGAGGACTTCTCTGAGTTTGACAGCATTCGCTCCTCAGCACTGACAGG[T/C]AAACGATGACTACCACGACTTCGTTTTTCAAATTAGAAAATGGGTCATTG
Long Flanking Sequence:
CTCTCATGCAAGATTGTCCAGCTGCTGCCCTCTTTCCAAAAAAAAAAAAAAGTCTTCCCCTCCTGCCTAGCAAAAGTAATTTTTTTTCTAAATTCATCGGCTGCTGCATCAGTCTTTCTATTGTTTCAGGCATTTCCTGTTGAATATAAATAAAAAATTCATTGAATATAAATTCGGTTCATCTTATTTGTGTTGAATTGGATGGAATAATGAACGAGGACACGACCAAGCATCTTTTTAGAACATAGTCTGGACAGCCTGAATTAGGCTAATACATAAATATCTAAATTTTCAAATCTAAATTAAGTGCAGGTCTCTACACTACATGAAGAACTTTCTGATGTCTTATTTGTTAAAAGCCTAAGCTCTGTCTTGATTATAAATCCCATCTCATCTGTCTTTACCTCAGTTGGTAGCTTTGACCTTTTCTCCACACCAAATGGTAGTTCCAGGGAGGACTTCTCTGAGTTTGACAGCATTCGCTCCTCAGCACTGACAGG[T/C]AAACGATGACTACCACGACTTCGTTTTTCAAATTAGAAAATGGGTCATTGAAATTGATCATGCTGACACATTGTTTTTTTTAAAGGTGATGGAAGAGGAAGCTCTGCCTTACCATCGCAAGCCAGCTTGTCGATTGGCTCAGATCTGTTTGAAGTTCCAAGCGGCCCAACCAGAAAAACTCCAGAATCTTTCCTGGGTCCCAACGCTGCTCTGGTCAATCTAGACTCACTGGTCAGCAAGCCTCTTCAGCAGGCTCCGGTCTCCAACCCCTTCCTTGCTGGAGGTAAAAACACTTCACCAAAAACATGCTTGCACTTGGTATTTGCATAACAAGAGATCTGTTCATCTGGTGTTAACATGCATTCATATGCATTTTTTTGTGGCCACCTTAGTTTGGATTAATAGCATTTTGGTACAGATGCAAAGCCAATTATTCTCAGGTACAAGATTGCTTGATTATATGGTCTGTTTGATCATAGGTCTAAATTATTGTTCTAACC
Associated Phenotype:
Not determined