ZMP
si:ch211-238n5.4
Ensembl ID:
ZFIN ID:
Description:
Protein LCHN [Source:UniProtKB/Swiss-Prot;Acc:Q1LX49]
Human Orthologue:
KIAA1147
Human Description:
KIAA1147 [Source:HGNC Symbol;Acc:29472]
Mouse Orthologue:
E330009J07Rik
Mouse Description:
RIKEN cDNA E330009J07 gene Gene [Source:MGI Symbol;Acc:MGI:2444256]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43090 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa32203 | Nonsense | Available for shipment | Available now |
| sa16749 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa43090
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 |
|---|---|---|---|---|---|
| ENSDART00000077076 | Nonsense | 53 | 410 | 1 | 9 |
| ENSDART00000090186 | Nonsense | 53 | 493 | 1 | 11 |
| ENSDART00000141367 | Nonsense | 53 | 490 | 1 | 9 |
Genomic Location (Zv9):
Chromosome 18 (position 20340365)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 20570588 |
| GRCz11 | 18 | 20559654 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGGGCTATCAAGTTACCCAACTGAGGCCACATTAGGGGCAGATATCACCT[T/A]GAACACGAGCCCGACGAGACCGAGCAGTGTAGCAGCTGTTCATTCTCCTC
Long Flanking Sequence:
CTGATGAACGTTTATAGTCGTCAGAGTCATCAGCATATTTATTTTAGGGAACAGCGCACACAGACAACATCACACTATTTATTTTTCGGGCGGGAGGAGGTTGATCGCAATAAAAACCTTTAGCACCACGTGAGCGGAAGTGTGTGACATCATCAAAACAGTGTCGACAGCGTACGCCTGGGCAGCGTCTGTTCAGCTGTCTGGATTTACTACATTTCAGGACCGTTTGAATCGCAAGCGCTATGTTCCGTTTCACGCGTCGCGTTTGTGGCTCAGACTGACTGCTCATCACCGAGCGTTACTTTGTTTATTTCCACCTTTATCAGTATCGATAAACAAGAGTATGGTTGAGCAGTCGGATCGCGCTCCGCTGCTGGACTGGGAGGAGATCCCCCCGGCCGAACTTGCTCCATCGGTTCCATCACCGGACACTGGCGATTCATTACAGTCCGGGCTATCAAGTTACCCAACTGAGGCCACATTAGGGGCAGATATCACCT[T/A]GAACACGAGCCCGACGAGACCGAGCAGTGTAGCAGCTGTTCATTCTCCTCATAAACAGCACAGCGGCCCGGGAGGAGATGCTCTAGCTGAGGAGGATGAGCCGGGAGACTGCGCCTTCCACGGGCTCTCGGTCAGGGACCGCAGGATTACTGGATGGGAAGAGAAAGATCAAATCGTTGCTGTGTTTGTGGTCACTTTCGACACAAGATCGGGTAAGGGTAATTGTAAAGTGTGAAGTAAAATGTCAATTGAGTTATTGAGGTAATGTGGCAGCCGCAAATAAGGATGCTATAACATGCCAAAAGCCAGCCTGCTGAAAGGGGTGGTTATTTTTTCTTCAAAAGTCGTCCTTTTTGCAGTTATTCGCCTCATTTTCTAATTATGAGATTAAATACTTCATTTTTGTGACATTTTAAGCACTATTTTTAGCTGTATTATCTTGTCAGATGGTCATCAAAACATCAATACCAAAAATATTTCCTAAAGATTTGGAATAAAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32203
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000077076 | Nonsense | 366 | 410 | 7 | 9 |
| ENSDART00000090186 | Nonsense | 366 | 493 | 7 | 11 |
| ENSDART00000141367 | Nonsense | 366 | 490 | 7 | 9 |
Genomic Location (Zv9):
Chromosome 18 (position 20325660)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 20555883 |
| GRCz11 | 18 | 20544949 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTTCTCAGGTACCACAGAGAAGATCTTTGAGGAAAAGAAGGAGCTGTA[T/A]GATGTGTACATTGACAATCAGAACGTGAAGACGCACAGAGAGAGTCTCCA
Long Flanking Sequence:
GTATAATGATTGTTTGTTCTGTAGACAAAAAAAAAAATTTAGCTTAAAGGGGCTAATAATTTTGTCCCAAAAATGGTGTTAAAAAAATAATAACTGCTTTTATTCTAGCAGAAATAAAACAAATAAGACTTTCTCCAGAAGAAAAAATATTATCAGACATAGCACAAGTACACTATGTTTGGTTTAAAGATTAACAAAGAAGAAGCATTAGGAGTCCCTGCAGTTTTCAGTCCAAATAAATGTAGACAATTCCTTTTTGAAAATTAACATATTAAAACAGAGATTTTATCATTTTACAGTCATAATATAAAATAAAAAATGATCTTTTTCTTAAATACTGTTTTATTTTACAGTGAAAATAAAATATAAATGTATGTTTATCAAAAATGTAACTGTAGGTTATTCAAAATGTAACTGTGTATGTAAGATGGCATTTTGAGGTTTTCTTTTGTGTTCTCAGGTACCACAGAGAAGATCTTTGAGGAAAAGAAGGAGCTGTA[T/A]GATGTGTACATTGACAATCAGAACGTGAAGACGCACAGAGAGAGTCTCCAGCCTCTGCTTCGACTCAACAGTGCAGACAGAGAGAAGTATCGCAAGCTCTGTGAGCAAAGGTACCAACATCTGAACCTCTTATGAGAAAGAAAAAACAATAAAAGTATGTATTTCCACAGGCATATGATCATATCAATGGGTTTCAGGCAGTTGCTGCTGTACTCTCAGGAGGTGGATGGAGATTGCACATCCAATGAGGAAGACCTCTTCATTCTGTGAGTGATGAATTAGGATCCTAAATGTAAATGTAAATGTACACACCTGAGCACAGATTATTATAACAGCAGGGAAGTGAAGTGAGCACCTATTAGCACCCTGTGACATTTTCCATACTATTTTCTATATTCTTCCTTGTCATTTGTTTGATATTTGTGAAATCCAAACTAGATTATCTTCAGTTTAGACAAAACGTTAATCAATAACAAATAATATGAATAAAACAAAGAGCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16749
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 > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000077076 | None | None | 410 | None | 9 |
| ENSDART00000090186 | Essential Splice Site | None | 493 | 10 | 11 |
| ENSDART00000141367 | None | None | 490 | None | 9 |
Genomic Location (Zv9):
Chromosome 18 (position 20323876)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 20554099 |
| GRCz11 | 18 | 20543165 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCCTGACCCCTCTGGACCACACTGATACTGCCAACACCAACAACCCAAG[T/A]CCGTCTACAGGCTTTTTCGCGCAGCCAGTGGCGTCTTTCTGCTTCTCTGT
Long Flanking Sequence:
AAGGTTTTTGTTCTGTTTTTTTTTTTTTTTTTCAGTTGAATAAAATACTTCTTAAAAATAGGTTAAAAATCATTCTCGTGAACCCAATCTTGTGTCTCTTCACACCCTAAATAAGTATGTATTTTCACTCCAGGTTCTTCATGGAGCAGAACAACCGAATCTTCCAGACCCTGTCTGAGGTGGCGGTGAGTGCCGATCCAACCCTGACTGCTGAGCACGTGCGAGCCATGGGGCTGGATCCTCAAGGCGATCGCGGCTTCCTTGTGGACCTGCTGGAAATCTACGGCATCGACGTCATGCTGGTTATCGACAACCCCTGCTGCCCGTAAGACCCTCCGTCTCTGCCCCTCTCTCTGGAGTCCTGTTTTCTGTTCGGGCTTAAATTCACATCCTACTGATCACCTGCTTGTCTTTTCTTTCTTTTCTCTGGCTTGGCTTTCTCAGGAGCCACTCCTGACCCCTCTGGACCACACTGATACTGCCAACACCAACAACCCAAG[T/A]CCGTCTACAGGCTTTTTCGCGCAGCCAGTGGCGTCTTTCTGCTTCTCTGTCTATCTGTGTGCTTTGTATTCTACCAGCCATCTTGGATTTCTTCTCAACTCTGCCTAAGCTTGTTTCCAAACATGATCTCTGTGCCTCTTTATTCCTGCTTTTTCAATCTGTGGTCTTCAGTTGTGACTTTGTTTTTCTAGCCAGTGCTGTTTGGGGGAACTGATGTGATGTCCCCTATGGATATAAATCTGCTTGGACACCAGAGAATTGGAATAACGGTCCATCATTTCCTGGATCTACATGTTTTTTTTGTTTGTTTGCTGGGAACAACGGTTTAACGTCTGCTCTGAATGTCATATATTATGTATTTCTAAAAAGTTTGATGGTTGTTCATATTACACACTACTGTAACGGTGAGGATTTTCACAGTCTTCGCCACAACAATTCAATCATGTACATGTGAGAAGTCATTTCATTTGGGGAAGAACCTGGGCAAAGTCAAAAGTCAG
Associated Phenotype:
Not determined