ZMP
samm50l
Ensembl ID:
ZFIN ID:
Description:
Sorting and assembly machinery component 50 homolog B [Source:UniProtKB/Swiss-Prot;Acc:Q5U3I0]
Human Orthologue:
SAMM50
Human Description:
sorting and assembly machinery component 50 homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:24276]
Mouse Orthologue:
Samm50
Mouse Description:
sorting and assembly machinery component 50 homolog (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31377 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31377
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000058007 | Nonsense | 162 | 469 | 6 | 15 |
Genomic Location (Zv9):
Chromosome 4 (position 8086651)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 9015001 |
| GRCz11 | 4 | 9015917 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGGGATTAAACTTCCAAACATGCTTGGCCGAGGAGAAAAGCTCACCTTT[C/T]AGTTTTCCTATGGAACTAAAGAGACGTCCTACGGCCTGTCATTCTTCAAA
Long Flanking Sequence:
GATTGTGGACCTATAGTGATTTACATAATTAGTACTGCCTAATATTTGGTTAAGACCAGTGTTGTTGATGCATAATTTGTACTGAATAAAATCGTGGAAGATAACGTGTACAAATTATTAAAAAAAACGAACTCTGCTACTTTTCTAATGTTTCACTGCATTCGTTAAAAGCATAAGCAATATTTGTTAAGCTCATTTAATGTTAGTCATCTTACCAGTCACTAAAAAAGATCAAAAGTTGTATCTTTTAACAGTAATTAATAGACTGTTTAAAAAAATGCTGTAAAAAGATATTGCTTCCTATTACTTAGAGTTAGTTATGCATGAATTAATGTAAAAAAAATAAGCATTGTGTTACCAAAATGAAAATAAAATCTAGTTATCTAGTTTTCTGTGTTATTTCACATGGCTTGTCATTGTTTTACTGAATGTTTGTTCCTCTGCAGGTCTTGGGGATTAAACTTCCAAACATGCTTGGCCGAGGAGAAAAGCTCACCTTT[C/T]AGTTTTCCTATGGAACTAAAGAGACGTCCTACGGCCTGTCATTCTTCAAACCACAGTCAGGATACTTCGAACGCAAGTATGTTTTCTGCTTGATTTATGCTGTTAGATTATTATATATTATTAAAAATAATAAACAACATCTTTGCTTTGTGTAGCTTCACTGTGAACCTGTACAAAGTCACTGGGCAGTTTCCCTGGAGCTCTCTGAAAGAGACGGACAGGGGAGTTTCTACAGAACTTAGTGTAAGATATCAACTCCATCCAGTGTGGGAATTATACATTGACTATTAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTACATTCTTTTTATTAAATTGTTTTACATTGGCACAAGAGTTCTGATACAAAATTTTCCACATTTATTTTTTACAAAGGTTTTTAACATC
Associated Phenotype:
Not determined