ZMP
HGFAC
Ensembl ID:
Description:
HGF activator [Source:HGNC Symbol;Acc:4894]
Human Orthologue:
HGFAC
Human Description:
HGF activator [Source:HGNC Symbol;Acc:4894]
Mouse Orthologue:
Hgfac
Mouse Description:
hepatocyte growth factor activator Gene [Source:MGI Symbol;Acc:MGI:1859281]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa14773 | Essential Splice Site | Available for shipment | Available now |
| sa21174 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14773
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000128264 | Essential Splice Site | 31 | 145 | 1 | 3 |
| ENSDART00000128264 | Essential Splice Site | 31 | 145 | 1 | 3 |
Genomic Location (Zv9):
Chromosome 8 (position 2145903)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 1957921 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGTGRCGTCCTGCTGGATSGTTTCAGCYGCTCACTGCTTCCTGCGCAAG[T/C]AKGACTGAGCATTTCYATCKATAACGCCTTYATNGTTGGATCACTTYATA
Long Flanking Sequence:
GGCTCATAATAAACACTTGACTTCATGAGGCTGGAATGGCATCAACATATTATTGATTTTATTAATGCAGAATCCAGCAGAGACACCAGTGAATGCTGGAGGACGAGTCTGAGCACGCTTTCCTTATGCTCTTATATCCAGCGTGTGTGAGAGAAAGTGTGTGTGTTTGTAAAAACAATTCAGTTCAATACATCTTTTGTGCAGCAGAGTTTGTCAGTGTGTATTCAGATGCGTATTAATGTGTGTGTGTGTCTCCAGCGGGCCGCAGAGCTCCTGTAATATCTGCTCCTCCACGTCCGTCCCGAAATCCCGCACGGGCTCCAGTGTGCGGAAAACGGCATAAGAAGCGAATCGGTCGGACACGAATCCTGGGTGGGACGTCTGCGTTACCCGGCGCTCACCCCTGGATGGCGGCGCTGTACATCGCAGACGAGTTCTGTGCGGGAACACTGGTGGCGTCCTGCTGGATCGTTTCAGCCGCTCACTGCTTCCTGCGCAAG[T/C]ATGACTGAGCATTTCTATCGATAACGCCTTCATTGTTGGATCACTTTATAATCATAATGTAATAATAAACATTCACCATAAATTATTAACAATTTTCAACACTTATCTACCAAATTTAAAGTTGATATCACCAAAATTTAGCTTTTAGTAGTATTTAGCTTGGGTGCAGTACCAAACATCACCACCAGGTTTCATTAATGACCACATAAGGGCGTCCTCTATTTTTGTATTTGTTTTGTTGAATACGAACTATATTTTTTATGCTTTTGACAATATTTGTAAGGTAGACATCAAATTCTAAAGTTGTAAATTGAAGACGAGTTCTGTGCGGGAACACTAGTGGCGACCTGGTGGATCGTTTCAGCCGCTCACTGCTTCCTGCGCAAGTATGACTGAGCATTTCTATCAATGACGCCTTTATTGTTGTATCACTTCATAAACATATTGTAATAATAACGTCCACCATGAATTATTAACAATCTTCAACACTTATATACGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21174
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 |
|---|---|---|---|---|---|
| ENSDART00000128264 | Essential Splice Site | 31 | 145 | 1 | 3 |
| ENSDART00000128264 | Essential Splice Site | 31 | 145 | 1 | 3 |
Genomic Location (Zv9):
Chromosome 8 (position 2145903)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 1957921 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTGGCGTCCTGCTGGATCGTTTCAGCCGCTCACTGCTTCCTGCGCAAG[T/A]ATGACTGAGCATTTCTATCGATAACGCCTTCATTGTTGGATCACTTTATA
Long Flanking Sequence:
GGCTCATAATAAACACTTGACTTCATGAGGCTGGAATGGCATCAACATATTATTGATTTTATTAATGCAGAATCCAGCAGAGACACCAGTGAATGCTGGAGGACGAGTCTGAGCACGCTTTCCTTATGCTCTTATATCCAGCGTGTGTGAGAGAAAGTGTGTGTGTTTGTAAAAACAATTCAGTTCAATACATCTTTTGTGCAGCAGAGTTTGTCAGTGTGTATTCAGATGCGTATTAATGTGTGTGTGTGTCTCCAGCGGGCCGCAGAGCTCCTGTAATATCTGCTCCTCCACGTCCGTCCCGAAATCCCGCACGGGCTCCAGTGTGCGGAAAACGGCATAAGAAGCGAATCGGTCGGACACGAATCCTGGGTGGGACGTCTGCGTTACCCGGCGCTCACCCCTGGATGGCGGCGCTGTACATCGCAGACGAGTTCTGTGCGGGAACACTGGTGGCGTCCTGCTGGATCGTTTCAGCCGCTCACTGCTTCCTGCGCAAG[T/A]ATGACTGAGCATTTCTATCGATAACGCCTTCATTGTTGGATCACTTTATAATCATAATGTAATAATAAACATTCACCATAAATTATTAACAATTTTCAACACTTATCTACCAAATTTAAAGTTGATATCACCAAAATTTAGCTTTTAGTAGTATTTAGCTTGGGTGCAGTACCAAACATCACCACCAGGTTTCATTAATGACCACATAAGGGCGTCCTCTATTTTTGTATTTGTTTTGTTGAATACGAACTATATTTTTTATGCTTTTGACAATATTTGTAAGGTAGACATCAAATTCTAAAGTTGTAAATTGAAGACGAGTTCTGTGCGGGAACACTAGTGGCGACCTGGTGGATCGTTTCAGCCGCTCACTGCTTCCTGCGCAAGTATGACTGAGCATTTCTATCAATGACGCCTTTATTGTTGTATCACTTCATAAACATATTGTAATAATAACGTCCACCATGAATTATTAACAATCTTCAACACTTATATACGAA
Associated Phenotype:
Not determined