ZMP
sort1a
Ensembl ID:
ZFIN ID:
Description:
Sortilin [Source:UniProtKB/Swiss-Prot;Acc:Q6NUT7]
Human Orthologue:
SORT1
Human Description:
sortilin 1 [Source:HGNC Symbol;Acc:11186]
Mouse Orthologue:
Sort1
Mouse Description:
sortilin 1 Gene [Source:MGI Symbol;Acc:MGI:1338015]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa41887 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa41887
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000020187 | Nonsense | 7 | 814 | 2 | 21 |
| ENSDART00000146093 | Nonsense | 7 | 814 | 1 | 20 |
The following transcripts of ENSDARG00000029402 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 11 (position 37181665)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 36078893 |
| GRCz11 | 11 | 36340876 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGATTTTTTTGTGCACATTAAACGGGAACCATGAGCACCGTGTTGTGCTG[T/A]GTTTTGGTGTTATTAATCTCAGTGGCTCTTTGCATGGACTTTGAAGAGAG
Long Flanking Sequence:
GACACTGGTTAACTTAATTTATTTGTGTTTGGACGACAAGAAGGAATTGTGTGGAACCCTGCTTTAGTGCTGATGAACGGAAGGCGTGGTTAACCCAGTTCTACAACGTTGAATGCTCGGCTGGCCTTACTCATTGGTTAATGTCCGAGTAACTTCGATGTTGCCTAATTAATATTGACGACCAAGCATTTTTATTGGATAACGTCAGAGCCTAATTCATATTCATTAGCGAACTCGCCGCCATTCAAAAGGTTACCAAGCATCTTCTGCGCGACTACATTAATATTCATGAAAATGGGCGTGTCAAAAGGACGGTTGCGTCCTAATCTTGAACAATCCGTGAGTTTAGCAGTGGAACAGCGGCTACTCTACAGACATGCGTCAGAGTGTAAACACTGCACGGTCTGTTCGATTATCAGCAAACCTGCTATAAATGGATATTTAAGCAGAAGATTTTTTTGTGCACATTAAACGGGAACCATGAGCACCGTGTTGTGCTG[T/A]GTTTTGGTGTTATTAATCTCAGTGGCTCTTTGCATGGACTTTGAAGAGAGACCCAGCAGCTCCTGGAGGAGTGAGCAAACCATGTTTCTAAAGAGTCACAAATCACGAAATCTGCTCAGTTTGAGAGATTTACAGCAGCCGGACCATGGCAAGATGAAAAGAAGTGAAGAATCCGCACAAAATCAATGTGAATCATTGCACGGCTATCAATCTACATTACAAAACGACACTCACACGGTAGGTCGAAACATTTCTTTCTCGTTATACCCACGATATTATTTAAAGGTAAATTTTGTATAATATATTTTAGGGGTAAAAGTTAAACTTTGTAAATTTTCTGGTGAAAACTTATTAGTTTAGTTATTAGTTTTTATTTTGTGATATTATGTTTCTGTCCTTTTTTGATTATAGCTAACAACAATGCAAGTGCATCAAAGTGCAATAGGCTGCAGTTTTAATATTATTTTATGAGTAACGTTAGTATCATGTATTACTACCAA
Associated Phenotype:
Not determined