ZMP
ENSDARG00000076131
Ensembl ID:
Human Orthologue:
AC092718.1
Mouse Orthologue:
Pkd1l2
Mouse Description:
polycystic kidney disease 1 like 2 Gene [Source:MGI Symbol;Acc:MGI:2664668]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa39441 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39441
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 |
|---|---|---|---|---|---|
| ENSDART00000099402 | Essential Splice Site | 78 | 225 | 3 | 5 |
Genomic Location (Zv9):
Chromosome 24 (position 17870006)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 17176482 |
| GRCz11 | 24 | 17320901 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAAAACACAATAAAGTGGAAATACTGTTTACTATGTGTGTTGCTTTAACA[G/A]ACAGGAGCTGCTTTCTCTCTTATTGGAAGTCCAGTCATTACAAAGATCAA
Long Flanking Sequence:
CATCACCCTTTAGGAGTGCATTTTAATATATTTTTAGATATAATTGTCTAGTATGTATCTTTGGCACTTAGAATGACTTTTTTTTCAACAGGGATTTGATGCTACACCTCATCATGCTGTGGATGATTATATTTGTGGCCTATGGAAAGTCTGACAGTGATTCAAAGTACCGTTTGAACCAGGCTATCAAAACTCATTTCACAAAGTATGTACAAGAGACAATCCCAATTAACACAAAACTTGAAAATATTTAATTACTGCAAGTGTTAACAATTGTTTCATATTAACAGAAGCCTGCAAAATTCATTTCACTCCATCCAAAAACATGATGATTGGTGGAACTGGACAACAACCTCTTTGCTGGAGAAACTATACAATAATGCTGACAACCAGGATGAAAGACAAGAACATGATGTACATTTAATGATATATTTGACATCTGTTAGTATTTAAAACACAATAAAGTGGAAATACTGTTTACTATGTGTGTTGCTTTAACA[G/A]ACAGGAGCTGCTTTCTCTCTTATTGGAAGTCCAGTCATTACAAAGATCAAGAGCACACATAACTCCTCATGCCAGGTATTTCACCATCACTGTTTCACAGGGGGAAAGAATAAATGCTTTCATGTGACAACAAAACAGATACATTGGACATCTTCGGGACTAACTAAGATTGATGTTTATGTTTAGTGAAGCTTTATTAATTAATAATTGATTGTCTTTATTATATTAACCAAGTGTTTATGTCACACATTTCTTCCAAAATAATTGTAATGTGCTGATTTCTTGCTTGGGAACCATTTTTCTAAATGGTTTGCTGTTTCATATTTTATGAACATTTACTTTTAATTCAGCAAGATTGCTTTAAATGAACCAGATGTGATTGTGAAGTTATTTAATATTTTATAAAAGTGTGTTTCTGTTTAACTTGTGTTTTTGTTTCAATTTATCAAAGAATCCTAATAAAAATATTGGTTTAAAAATTTTTAAACAGTTAAGCTGTA
Associated Phenotype:
Not determined