ZMP
psen2
Ensembl ID:
ZFIN ID:
Description:
Presenilin-2 [Source:UniProtKB/Swiss-Prot;Acc:Q90ZE4]
Human Orthologue:
PSEN2
Human Description:
presenilin 2 (Alzheimer disease 4) [Source:HGNC Symbol;Acc:9509]
Mouse Orthologue:
Psen2
Mouse Description:
presenilin 2 Gene [Source:MGI Symbol;Acc:MGI:109284]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa16972 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16972
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000006381 | Essential Splice Site | 45 | 441 | 3 | 11 |
Genomic Location (Zv9):
Chromosome 1 (position 51567613)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 50414492 |
| GRCz11 | 1 | 51058291 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATTTATTCCAGTGTAAAGTTAAGGCTGATGTGTGTGTGGTCTCCTCCAC[A/T]GAGCGGTGCGGTCCGCTCGAGGTCYGCCTCGGGCTCTGGAGATGYCRGGC
Long Flanking Sequence:
TGTGTGTGTCAGTTTCTCTTCATGAATACCTCAGACAGTGAAGAGGACTCCTACAACGAGAGGTCCGCTCTGGTCCAGTCCGAAAGCCCAACCGTGCCCTCATACAACCAAGACAATGCCATGTCTCTCCCCCAGGACACAGACAGCAAACGGGTCAGATCTCACACATTCACATCTACCTTTACAGTCTGTGTATGTTTATTACTGTTCAGAAAGCCTTGTAATAAGCTGCCAGTACATTCTCTGTTCTTTTACAGACTTATTTCACTACATATTATTATTTCTTACGCATTATATTATTATTTCAAATTAAAACGTCAATAAAAGTCACTTTGTTAAAGTGATGAGTTGAATTTGCAACATCAAAAGTCTACAGAGCAGAGATCAACATCTCATAACTGTAAATAAACACTTGTGAATCACCAAATACAGAAGCTGTTAATCTGCCGATATTTATTCCAGTGTAAAGTTAAGGCTGATGTGTGTGTGGTCTCCTCCAC[A/T]GAGCGGTGCGGTCCGCTCGAGGTCCGCCTCGGGCTCTGGAGATGCCGGGCCGGTGGACAGAGAGCGCGCAGACACCCCTGATGGAGAGGAAGAGGAGCTCACACTCAAATACGGCGCGAAACACGTCATCATGCTCTTCATCCCTGTCACGCTCTGCATGGTGGTCGTAGTGGCCACGATCAAGTCCGTCAGTTTCTACACCGAGAAGAGCGGACAGCGGCTGTATGACCCGCTTTACCTTTTAGTTCACATAATATCACCGCTGCAGCTATCTATGTACTCTTATGTTGCTTTAAATGCAAATTCTGTTCTTTTTTTATTTTCTTTCTGTTATTAAGGAGATTGAAAAACAGACAGCTGTTCTCTTTTTGCAGAAGATATAAGAATTATGACTATATTTCTTCACCCTCACGTTGCTTTCACGTTGTTGTTTTTCTGTATTTTTTTTTCTTTTGTTAAGGAGAACACTGTACTCCCTGCAGACAAAAAAAATTACTGAT
Associated Phenotype:
Not determined