ZMP
hps1
Ensembl ID:
ZFIN ID:
Description:
Hermansky-Pudlak syndrome 1 protein [Source:RefSeq peptide;Acc:NP_001032777]
Human Orthologue:
HPS1
Human Description:
Hermansky-Pudlak syndrome 1 [Source:HGNC Symbol;Acc:5163]
Mouse Orthologue:
Hps1
Mouse Description:
Hermansky-Pudlak syndrome 1 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:2177763]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17216 | Essential Splice Site | Available for shipment | Available now |
sa42277 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa1853 | Essential Splice Site | F2 line generated | Not yet available |
sa35570 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa17216
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 |
---|---|---|---|---|---|
ENSDART00000057047 | Essential Splice Site | 39 | 668 | None | 19 |
ENSDART00000109822 | Essential Splice Site | 39 | 668 | None | 17 |
ENSDART00000146112 | Essential Splice Site | 39 | 56 | None | 4 |
The following transcripts of ENSDARG00000026170 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 41306604)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 40568656 |
GRCz11 | 13 | 40694546 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACAGCGGCTTCAGGAGCAGTATGGARTCTCCCAGGAGGAAGGAGAAGGAG[T/A]ATGNNTTTTTTTTTGCTCTAGATTATCAAATAGTGCTGTTTGRCTTTCAGAC
Long Flanking Sequence:
GTTTCAGCATCTTTGGTGTACCTCCTTAAGGAAAACTTATTTGTGTTGTTTAATTCTACTAAATGAAAATTCTGCCACAATTTACTCTCCCTTTAGAAGATCATATGAAAAATGCTGGTTTCTGGGATCCATTGATTTCAACAGTATTTTTCTTTGTCCTGCTATGGAAGTTGATGGGTCCCAGCAACCAGTTTTCTTTGTAAAATATCTTCTTTTGTTTCCTACAGATGTAAGAAACTAATAAAAGTTTAAAAACCGCATGAGGAAGAGTAAATAATGAGTTAATTTACATTTTTGGGCAAACTCGCTTTAGAAGTCCTGCAAAGTCAGTAATGCCTCAAGAAAGCATGTGAACACAATGAATCATTTTTCCTCAGGTAAAATGAAGTGTCTGCTGGTGGCCAATGAGAGCGCAGAGGTTCTGTTCTACTGGACGGACAGCGAGTTCGAACAGCGGCTTCAGGAGCAGTATGGAGTCTCCCAGGAGGAAGGAGAAGGAG[T/A]ATGTTTTTTTTTGCTCTAGATTATCAAATAGTGCTGTTTGACTTTCAGACACATAAAACATAGATATTTTAAGCTACTGTACATAACATTGGGTACTCCGGTAGTTTTTACATAAAACTGTTTGCTTCTTAACGAGGAACAGTATAGCTGGAACTACCTCTCATTCAAGAAGACCCTACTCAATGTTTGTAATGCACAAAACCTCTTACAGTAAAACACATGTTACTGGACTGTCCTGCTTTTAATGGTTCCAGAAGGCTTTTTTTCTTGAATGAATTCTCTTGAGGACATTTGTAGCAAAGTGACACCAGAGAAAATATTAGAATTTTCATCCTCTAATAACACTAAAAATCTTATTTAAGTTATTGTTTTCAGTTGTTTGATGATTTTAATTGTATATTTATTATTGAATTATTCGTGCCATGAAAATAGCCTTGGGTGCTTACATGGCATTAAATAAATGAATAAAATAACATTACCTCTCATTCAAATGCTACACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42277
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000057047 | Nonsense | 109 | 668 | 5 | 19 |
ENSDART00000109822 | Nonsense | 109 | 668 | 3 | 17 |
ENSDART00000146112 | None | None | 56 | None | 4 |
The following transcripts of ENSDARG00000026170 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 41312262)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 40574314 |
GRCz11 | 13 | 40700204 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGAACGGAGACGGAGAGGAGACCGAAGAGGATTTGAAGAGAAAGATCTA[C/A]GTGATGAAGAAACTCACAGAAATCCTGTTTGGGATGGTGACGCTCAGCGG
Long Flanking Sequence:
TCAGTATTGCAATAAATTATTTTTATTTTTTTCTCCTAAACCTCTTACTGTTCCTATTGCCTATAGAATAAAAAAAAAACATGTGTCAACTGTCAAGCCATAAGAACCGAACCGAAAACCGTGTTAAAAAACCGAGGTATGTATTGAACTGTGGGCTGACTGTATTGTTGCATCCCTAGTTTATAGTATATGTATAGTTGGTACCGCTCCTGTAGTTATGAATAGGTTTACATCAAGTATTATGTTTTTATTTATTATTATGTTAGTTTATGTAGCAACCCCGCTCCTGCAAAACACGCCATTTAATAAAACTTTTAGTTTACACTTGATGTTTTTCACTTCAGCTGTGAAATATCGCCACAGTTTAAAAAATAAAATAAAATTCTACATCTCTGTTAATGACCCTCTTTCTGTTTGTTCATGCAGTTTGATGAGTGCCTGTACATCGCTGTGAACGGAGACGGAGAGGAGACCGAAGAGGATTTGAAGAGAAAGATCTA[C/A]GTGATGAAGAAACTCACAGAAATCCTGTTTGGGATGGTGACGCTCAGCGGCCCCCTCCTGAGGAAAGAGTGAGAACTGCACTTTCAATTTTAATCCTGAAGATTAGCGTGAACAGTCTAGTTGGTTCTTATTTTAACACCAAATACCTTTTTCGTTTGTGTTTCAATTTGTTAGACTGCGCTCTTAAGACACTGAGCAGAAGAACCGTAAAAATGACTTCCTTTTGTAAATAATAATATCAGTTTTTAAAGCAGCAATTTAACATTGATTACATTTCTGAATGATTGTGACACTGAAACATAAATAATGTAATATAATAAAAAATAATGTAATAAACTGTATAAGAATAATATTATTGTACTAATATTATGTTATTGTCTATACCATTTGGCAATGCTTAATATAACTGTAATATAACAATGCGTTCCTTACAAAAACAGAAAAAATATAAGAACACATTTTTTTTACAAAAGCTAAACATTTGAACCGTAGTGTTTGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1853
Status:
F2 line generated
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000057047 | Essential Splice Site | 222 | 668 | 8 | 19 |
ENSDART00000109822 | Essential Splice Site | 222 | 668 | 6 | 17 |
ENSDART00000146112 | None | None | 56 | None | 4 |
The following transcripts of ENSDARG00000026170 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 41314833)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 40576885 |
GRCz11 | 13 | 40702775 |
KASP Assay ID:
554-1844.1 (used for ordering genotyping assays)
KASP Sequence:
TAATGTAATTAATTGTAATCCAAATGTAATTCTTTTTTTTTCTGTGTGCA[G/A]TCGTAATGCCAGCAATCTGAACCCTTCTGATCTCCTGGCTCTGATCATAC
Long Flanking Sequence:
CTTTTTTATATTTTTTAAATATTTCCCAAATGATGTTTAACAGAGCAAGGAAATTTTCACAGTATGTCTGATAATATTTATTTCTTCTGGAGAAAGTCTTATTTGTTTTATTTTGGCTTGGATAAAAGCAGTTTTACATAAAAAAAAAAAATTAAAGGACAAAAGCTGTATAGAAGTGTCTTGAAAAATATCTAGTCAAATATTATTTACTGTCATTATGGCAAAGATAAAATAAATCAGTTATTAGAAATTAGAAATCTAATAATCAGTTATTAGAAATAAAATTATTATATTTAGAAATGTGTTGAAACAAATCTGTCCATCAAACAGAAATTAGGGAAAAAATAAACAGGAGGGCTAACAATTCAGGGGGGCTAATAATTCTAACCTCAACTGAATTTGAAAAAAATAATAAATTACAGAAGGGCTTATAATTAATAATATTAGAAATAATGTAATTAATTGTAATCCAAATGTAATTCTTTTTTTTTCTGTGTGCA[G/A]TCGTAATGCCAGCAATCTGAACCCTTCTGATCTCCTGGCTCTGATCATACTGGTGCAAGATCTTTATCCCAGCAAAATAGACCTGGATGACACTCCTGAGGTTTGACTTCACTAGTTTGTAATTATTTAGTTATTATATTTTACTGTGCTTTGACAGTATTTTCTGTGTTGTTTAGGAGCTGGAGAACAGTACAGTTCCTGATGTTTTTTACACACCAGAGCCATCTCCTCCTGAACGAGAATCAGGTGATAAAAATGTATCCATATGCCATTGCATGCGTGTTTGCACCATAATGAAATGCACCAAGGTGTTACAGTGTATATATATATATGTTTTTCTAAATGATTGCTGCATGATTCATTTTATCTTATGTTTTTACTGGACAGTCACACCAAGAAAGGACAGTCCTCCTGTCTTCCAGTTTGTGGATCCTGATATTCAGGTCATTGAGCTGCTTTTTATGATCTAAAAGTAATATGATCTCATTGTATAGATTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35570
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 |
---|---|---|---|---|---|
ENSDART00000057047 | Essential Splice Site | 615 | 668 | 18 | 19 |
ENSDART00000109822 | Essential Splice Site | 615 | 668 | 16 | 17 |
ENSDART00000146112 | None | None | 56 | None | 4 |
The following transcripts of ENSDARG00000026170 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 41324325)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 40586377 |
GRCz11 | 13 | 40712267 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCCAGATGACACCGCTCCAATAGGAATGCTCACATTTGATTATTATAGG[T/G]ATGAGAATTCACATGCAAGCTGATGCATCTTTAACATTTCTTGGTAAAGC
Long Flanking Sequence:
TGATCACAGGAATAAATATTTTGAACTTTGTTTACTATTTTACTATATTGCTTTTTACTGTGTTTATAAAGAATGTCTGTTGTGTGGTGATCATACGATAAAATAGACATAAGACTTAAGACAAGATAAAATGTAGATTCTAAAATCATTTTTTGTCCAAACTTTTGAGCAACCCCATTAATCTGTTTAGTTCATAACAATTTACTGGTCTTCAGGTTTGGAGTCTTGTAGCAACAGCACGACGGTATCTGCACAAGGGTTATGCTACCGTCACACTTCGAGATGGGGATTACTTCTACTGTTACTTCCTGTGGTTTGAGAATGAAACGGTAAACGACATCTTGGATCCTCTTTAAAGTTATTGGAATGCACACAATAAAAGTTTGATTAACTGCAATGTAACCTTGTTTTGACAGGGCTACAAACTGGAAGTGACAGACATACCCAGTTGTCCAGATGACACCGCTCCAATAGGAATGCTCACATTTGATTATTATAGG[T/G]ATGAGAATTCACATGCAAGCTGATGCATCTTTAACATTTCTTGGTAAAGCCTAGTTTAAAGATTATTGTAAATGACAAAAATAGCTGTTTAATACAGAATTAGAAGTAAAAGTTGAGGTTTGACCCTCACCGGCCACTTTATTAGGTATACCTGTCCAACTGCTCGATAATGCAAATTTTTAGTCAGCCAATCACATGGCAGCAACTCAATGCATTTAGGCATGTAGACATGGTCAAAACAATCTACTGCAGTTCAAACCGAGCATCAGAATGGAAAAAAAGGTGATTTAAGTGACTTTGATCGTGGCATGGTTGTTGGTGCCAGACAGGCTGGTCTAAGTATTTCAGAAACTGCTGATCTACTGGGATTTTCACCCACAACCATCTCTAGGGTTTACAGAGAATGGTCGGAAAAGAGAAAATATCCAGTGAGTGGCAGTTCTGTGGGTGCAAATGCTTTATTGATGCCAAAGGTCAGAGGAGAATGGCCAGACTGGTTC
Associated Phenotype:
Not determined