ZMP
ctskl
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to vertebrate cathepsin family [Source:UniProtKB/TrEMBL;Acc:Q1LXE8]
Human Orthologue:
CTSH
Human Description:
cathepsin H [Source:HGNC Symbol;Acc:2535]
Mouse Orthologue:
Ctsh
Mouse Description:
cathepsin H Gene [Source:MGI Symbol;Acc:MGI:107285]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa12959 | Essential Splice Site | Available for shipment | Available now |
sa1007 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12959
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 |
---|---|---|---|---|---|
ENSDART00000062749 | Essential Splice Site | 96 | 349 | 3 | 8 |
ENSDART00000137497 | Essential Splice Site | 58 | 264 | 2 | 7 |
The following transcripts of ENSDARG00000042753 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 22 (position 16634016)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 16385774 |
GRCz11 | 22 | 16412044 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTYGGAWTGTCAATGTTTAAAATGGCAATGAACAAATATGGAGACCTGG[T/A]AAGTAAATCGGAATTAAATATCCATTTATCTGAAAATAACCAYTGAAAAC
Long Flanking Sequence:
GTGGGCTCCTGTGCAGGTGGCATCAGAATCGGAAGAAGAAGCCCCAACTGAGTGGAATCTGTGGAAGAAAAAACACGAAATATCCTACGACGAAGAGGTCGGTTATGGTCAGCTGGGCATGACTTAAAGGTACAGTACACCCAAAAATGAAAGTTCAGTCATTATTAAACTCATATATTGAGAGCATGAGGGTGACCGAATGTTCAGTTTTGGGTGGACTATTCCTTTAATTGAAAGGTTTGAATGATTGTTGTGCTCTGGGGATACTTAACCCTGTATAAACATACAGTTTACGTGTGTTGTTAAGATGATTATATGTCGCTCTATACACTGAATGTTTGTGTATTTCTCATGACGTTTGGCTTTTTAACCACAGAGTGAAGATGTTCACAGAAAGACCATTTGGGAGACCAACATGCAGAAGATCTGGAAAAACAACAATGATTTCAGTTTTGGATTGTCAATGTTTAAAATGGCAATGAACAAATATGGAGACCTGG[T/A]AAGTAAATCGGAATTAAATATCCATTTATCTGAAAATAACCACTGAAAACCATTTAATTGGATAAGTAATAATATTTATCATTATGTTTTTTGTGATGTGAATCTTCATTTGAATGGATCTTTATACTAGTAATGTTGATATTTATACTAGTCGTATGAATTTCATGCAAAAAAAATTTTTTTTTGAGAAATCACACCTGTTTGTCATTATTATTACAGATTTGATGTTCAATTTACTTTTCTCAAACAATTAGAATGATTATTAAAACTGCATAGTTGTATTTATCGTTATAATTGTTGTGATTGATGCGAATTCCTTGTTATACTGACACCTAGTGGTGTGGAGTAATTAATATGTGCAAAAATATCCATTTCAGCTATAATGTTGTTCTGTAATTTTTTTGCTTAATCTTTAAACCAACATTGACAACTGAAATAAAATGAAAAATGGTGACCTCATAAGTAAAACTATTTTTTACTTACATTCTGAGCTTTATTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1007
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000062749 | Nonsense | 312 | 349 | 7 | 8 |
ENSDART00000137497 | Nonsense | 227 | 264 | 6 | 7 |
The following transcripts of ENSDARG00000042753 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 22 (position 16629477)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 16381235 |
GRCz11 | 22 | 16407505 |
KASP Assay ID:
554-0911.1 (used for ordering genotyping assays)
KASP Sequence:
CATGCTGTGCTGGTGGTTGGTTACGGCTCMGAGGAGGGCACAGATTACTG[G/A]ATAATCAAGAACAGGTGAGAGAAAACGCCCTTCATTTACATTTRTGCCAC
Long Flanking Sequence:
ATATTATATTATATTATATATTAAATTATATTAAATTATATTAAATTATGTTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTAAATTATATTATATTATATTATATTATATTATATTATAATATGACACACAAAAAATAAAAAATAAGACACATTTTAGCAAAAATAGTAATGAAACATTAAAATTCTTATTAAAATCAGAATTGTATAATATATAATCAATTTCAAACAAACTATAATTTTTTTTTACAATTCTGTAACACTTTAGAATTAGTTTTAAAGGACTATTATTTTAAAGTGTTACCAAAAATATCATCATTTTAAGCATTGTTTTATTTTAGATTTGTTTATTTAGCTTAAAAACATTTTTTATTCCACAGGAATCTACAAGGAATCCAACTGTAACCCTAACAATCTCAACCATGCTGTGCTGGTGGTTGGTTACGGCTCAGAGGAGGGCACAGATTACTG[G/A]ATAATCAAGAACAGGTGAGAGAAAACGCCCTTCATTTACATTTGTGCCACAACATTAGCAATGCAACCCAAACTAGACCACTTTCCTTTTTATTATCATGCTCTTACAGTGGCCTTCATTACCCTAAAACAGCCACTTCACAGAATACTATGCTGTGAAAGTGTGCCAATTCTAGGTATCTGATGTTTTGTTTTGCTGTCTTTTCTCAGCTGGGGAACGGGATGGGGTGAAGGAGGCTACATGCGGATGATCCGCAATGGCAAAAACACATGTGGCATTGCCAGCTATGCTCTTTATCCCATTATTTGAAACAAACGATATGTTTTACAATAAGGTCTGTGTCACAAATCAGTGTATTTAGCGGGTTTGACTTGTACAGAGCCGCACTTTAGTCTTGTTTGCAGTCCGACTTTAAGACAAGGCACTTCAGGTGAATTGGGTAAAAAAATAAAACTCCTCCAGTAGATTAAGTTAAGAATTCCAAACTTTTTTTATTGTCA
Associated Phenotype:
Not determined