ZMP
POT1
Ensembl ID:
Description:
protection of telomeres 1 homolog (S. pombe) [Source:HGNC Symbol;Acc:17284]
Human Orthologue:
POT1
Human Description:
protection of telomeres 1 homolog (S. pombe) [Source:HGNC Symbol;Acc:17284]
Mouse Orthologues:
Pot1a, Pot1b
Mouse Descriptions:
protection of telomeres 1A Gene [Source:MGI Symbol;Acc:MGI:2141503]
protection of telomeres 1B Gene [Source:MGI Symbol;Acc:MGI:1920086]
protection of telomeres 1B Gene [Source:MGI Symbol;Acc:MGI:1920086]
Alleles
There is 1 allele of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa32537 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa32537
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 |
---|---|---|---|---|---|
ENSDART00000115139 | Essential Splice Site | 67 | 773 | 2 | 20 |
Genomic Location (Zv9):
Chromosome 25 (position 28290976)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 26981070 |
GRCz11 | 25 | 27424272 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCTGTGCACAGAGAGATGGCTTGGAAATGCTTAGAGCTGAGATCAGAGG[T/C]GAGTTTCCCCATTTGAATGTAAATTCAAAGACAAAGATCATGAACAACCC
Long Flanking Sequence:
GAGCCACTTATTTTGAAGGTTTCAGTTTTGCACAGAGGTAATGATAGTCTTGTCTGCCACTATTCTAACACATAGGCCCTAGTGGTCCACCTTCTATTAAAAAGAGGAATCTCATTTCAATTCAAAGCTACAGTCAACAACATGGCACAATTAACATCAAAACCTAAAAAGAGCAAAGAGAAACACATTTTGTGGGGTATTTTGAGCTGAAAATTCACATACACACTCTAGGGACATCAGATACTTATTTTACATCTTCAAAAAGAAAGGCATGATAGATGCTCTTTAACAAAAAATAAACAAATTAATAAAAAAATTACTTTAAAGCTATTTGTTGAGCATGTAGGAACATAGCCCTTTGTTACTACAGGTTTTCAGTTATAGGTGTAAGTGCTTATATGAGTCATTGCCTCTGCATAGGCTAGAGTGCTTCGCAAAGGTCCTGTGATATCCTGTGCACAGAGAGATGGCTTGGAAATGCTTAGAGCTGAGATCAGAGG[T/C]GAGTTTCCCCATTTGAATGTAAATTCAAAGACAAAGATCATGAACAACCCTGCATCTTATCAAGCTGATCTTTTTTTGTCAATAGTGACACGCAATCTGTTTGCCACTCACACCTCTCATCCTGTTTAAAGGATCTGTGGTGCTTTGGGCTTTAGCAAATTTGTGTTGAAAAATCTGTCATCATGACTGCATGGCTTTGCTCCATTAAGATTTTAAGTAACTGTTTTAATGTATCTGGAGAAAAGAAGCTCAATATGGGGCCAATTTGATAGATTGAAGTGGCTTCTTCAAAGCATGCTTTAGACTTACTCATTTTGATTAATTTTAGCGCTCAGCCCTGCAGATTTTGAGTCTTAAAATGAAAGCTGAATTACACCCAGACTCACTCTGTCCTTGCTGTTTGCTTTCTGTCTTTCTCAGAGGAGGACCCCCTTCAGAGTACCACTGAACATACATCAATCAACGTCATTTTCTTTGACACACTGGCCAAGGACTTTTCC
Associated Phenotype:
Not determined