ZMP
LOC100334034
Ensembl ID:
Human Orthologue:
HAP1
Human Description:
huntingtin-associated protein 1 [Source:HGNC Symbol;Acc:4812]
Mouse Orthologue:
Hap1
Mouse Description:
huntingtin-associated protein 1 Gene [Source:MGI Symbol;Acc:MGI:1261831]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa35041 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa38828 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa35041
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000112328 | Essential Splice Site | 144 | 634 | 4 | 16 |
| ENSDART00000112328 | Essential Splice Site | 144 | 634 | 4 | 16 |
Genomic Location (Zv9):
Chromosome 11 (position 11738112)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 11633115 |
| GRCz11 | 11 | 11616736 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCACTTTTATGCCAGCACTGAAGATATAGAGCACGCCACAGAAACACTG[T/A]AAGTCTAACACACAGACACACACACCTATGTGTCTATGTGATCGACAACA
Long Flanking Sequence:
GTTAATGTCAAGCCCTGGATATAATGAAGATTTTTGCATAACAACACAGCAGGGCTTTATCCATCCCAAACACTCAACGTCAAGAGAGTCTCGATAAGCAAATATAAACTGCACACTCATGACTTGACTATATCATTAGTGAGGATGTTTGTCTCACTGGGCATTGCATAACTTTATATCTGTTTATCCTTTAATGATGTCTATGCCTAAATATTTATCAATTAAAGGGGTTATCAACAATTAATCTATCATTTTGCAATCATTAACTTCCCTAGTTCAAACCCTTGTGTTAGTGTTGTGTCATTTAAAGCAGCATTTGAGTTCAAATATCTGGCATGTTTCATAAGTAGATTTGATATGATGCATTAAAATAGACTTTAAGGCTGATCGTGAGTCTGTTCTCACAGATTGCCCAGCTGCGCCATGAGCTCTCCATGAGAGATGATCTCCTGCACTTTTATGCCAGCACTGAAGATATAGAGCACGCCACAGAAACACTG[T/A]AAGTCTAACACACAGACACACACACCTATGTGTCTATGTGATCGACAACATTGTTCTGCCATATACTGATAACTGTTTTCTCCACTGTCAGGCTTATAAGGAACGATTCGTCGTCATCTCTCAGCAACTACATCAATTATGACTTCCTGCAGCAGAAACTGAAAGGTCTGGAAGAGGAGAACTTCAAGCTGCGCACAGAGGTGTGTTTGCATTCATACATACAGTCAGTGATGGGTTAGTTACTTTAAAAAAGTAATTAATTAGTAATTACATCATTAAAAGTGTGCAATTAGAAATTGCTTTTCTAATTACTTCAAAAATTACTTAGCTGACTTCGCAGTACTTAAAATTACTATATATCTCAACGCATAGAAAATAGAAATTAAAAACTGATTTGATTGCTGAAATTTGAGTCAATCGTGGTCTTTAGTTTATTTAAAAAAAGCAATTAAGATTAAATAATGTATATATCATAACACAAACTACATGCCATATTATCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38828
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000112328 | Essential Splice Site | 144 | 634 | 4 | 16 |
| ENSDART00000112328 | Essential Splice Site | 144 | 634 | 4 | 16 |
Genomic Location (Zv9):
Chromosome 11 (position 11738112)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 11633115 |
| GRCz11 | 11 | 11616736 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCACTTTTATGCCAGCACTGAAGATATAGAGCACGCCACAGAAACACTG[T/A]AAGTCTAACACACAGACACACACACCTATGTGTCTATGTGATCGACAACA
Long Flanking Sequence:
GTTAATGTCAAGCCCTGGATATAATGAAGATTTTTGCATAACAACACAGCAGGGCTTTATCCATCCCAAACACTCAACGTCAAGAGAGTCTCGATAAGCAAATATAAACTGCACACTCATGACTTGACTATATCATTAGTGAGGATGTTTGTCTCACTGGGCATTGCATAACTTTATATCTGTTTATCCTTTAATGATGTCTATGCCTAAATATTTATCAATTAAAGGGGTTATCAACAATTAATCTATCATTTTGCAATCATTAACTTCCCTAGTTCAAACCCTTGTGTTAGTGTTGTGTCATTTAAAGCAGCATTTGAGTTCAAATATCTGGCATGTTTCATAAGTAGATTTGATATGATGCATTAAAATAGACTTTAAGGCTGATCGTGAGTCTGTTCTCACAGATTGCCCAGCTGCGCCATGAGCTCTCCATGAGAGATGATCTCCTGCACTTTTATGCCAGCACTGAAGATATAGAGCACGCCACAGAAACACTG[T/C]AAGTCTAACACACAGACACACACACCTATGTGTCTATGTGATCGACAACATTGTTCTGCCATATACTGATAACTGTTTTCTCCACTGTCAGGCTTATAAGGAACGATTCGTCGTCATCTCTCAGCAACTACATCAATTATGACTTCCTGCAGCAGAAACTGAAAGGTCTGGAAGAGGAGAACTTCAAGCTGCGCACAGAGGTGTGTTTGCATTCATACATACAGTCAGTGATGGGTTAGTTACTTTAAAAAAGTAATTAATTAGTAATTACATCATTAAAAGTGTGCAATTAGAAATTGCTTTTCTAATTACTTCAAAAATTACTTAGCTGACTTCGCAGTACTTAAAATTACTATATATCTCAACGCATAGAAAATAGAAATTAAAAACTGATTTGATTGCTGAAATTTGAGTCAATCGTGGTCTTTAGTTTATTTAAAAAAAGCAATTAAGATTAAATAATGTATATATCATAACACAAACTACATGCCATATTATCA
Associated Phenotype:
Not determined