ZMP
zgc:171630
Ensembl ID:
ZFIN ID:
Description:
serine (or cysteine) proteinase inhibitor, clade H, member 1 [Source:RefSeq peptide;Acc:NP_00110384
Human Orthologue:
SERPINH1
Human Description:
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
Mouse Orthologue:
Serpinh1
Mouse Description:
serine (or cysteine) peptidase inhibitor, clade H, member 1 Gene [Source:MGI Symbol;Acc:MGI:88283]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa41715 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa41715
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000109752 | Essential Splice Site | 193 | 403 | 2 | 5 |
Genomic Location (Zv9):
Chromosome 10 (position 39882303)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 10 | 38572274 |
| GRCz11 | 10 | 38516032 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGGAGAAGACAGATGGAGCCATGATCATCAATGCCATGTTTTATAAACG[T/G]AAGTGTTGATTAAAGTTTGAGTGAAAGGCAGTTGGTAGATTCGTTAGAAA
Long Flanking Sequence:
ACGCTAGCCGACAACAGCGCCACACTGGCCTTCAACCTGTATCAAAACATGGCGAAAGATAAGGACATCGAGAACATCCTGATTTCCCCAGTGGTAGTGGCCTCATCGCTGGGTCTGGTGGCTCTTGGAGGAAAATCCAACACTGCTTCTCAGGTCAAAACCGTCTTGAGCGCCGCTTCAGTGAAGGATGAGCAACTCCATTCTGGGCTTTCGGAGCTCCTCACCGAGGTCAGCAACCCAAAGGCACGAAACGTCACCTGGAAGATCAGCAACCGCTTCTACGGGCCCAGTTCTGTTAGCTTCGTTGATGACTTTCTGAAAAGCAGCAAGAAGCATTACAATTACGACCACTCCAAAATTAACTTCCGCGACAAACGCAGTGCGGTGAAAGCCATCAACGACTGGGCATCGAAGTCCACCGATGGAAAGCTGCCGGAGGTGACCAAAGATGTGGAGAAGACAGATGGAGCCATGATCATCAATGCCATGTTTTATAAACG[T/G]AAGTGTTGATTAAAGTTTGAGTGAAAGGCAGTTGGTAGATTCGTTAGAAACTAAAACGTGTCTCTGTTTTCTCTCCAGCACACTGGAATGAGCAGTTTCATCATAAGATGGTGGACAATCGTGGTTTCTTAGTGCACCGGTCATTCACCGTCTCCGTACCCATGATGCACCGCACAGGTGAGGACTTGATTAAAAAGAGTAGATCATCCTGAAACAAAAAAATCATTTGTAGCTTAGTGGTGAAGGGGGCCAAATCACATACATATGCAATACACTGAAAATCTAACCGGGTTCGAATGTTATCACTTGATTGAATCGGTGTTATCAGTGTTTATCATCTGATAAATTTGGCCAGTAGGGGCCTTCTGCGCCTACTGGTAGTCTCAGAAGGCTGATATCATCCATCCACATGGTTAATCAGCTACACCAATAGAGAAGACTCCAAATCCAGATCTGTTTTTACATTACTGTGATGGTTTGGTTTAGGGTTGGGGTAGACA
Associated Phenotype:
Not determined