ZMP
arhgap44
Ensembl ID:
Human Orthologue:
ARHGAP44
Human Description:
Rho GTPase activating protein 44 [Source:HGNC Symbol;Acc:29096]
Mouse Orthologue:
AU040829
Mouse Description:
expressed sequence AU040829 Gene [Source:MGI Symbol;Acc:MGI:2144423]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa1827 | Nonsense | Available for shipment | Available now |
| sa12914 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa1827
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000056127 | Nonsense | 110 | 984 | 5 | 21 |
Genomic Location (Zv9):
Chromosome 3 (position 49868041)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 44562461 |
| GRCz11 | 3 | 48707872 |
KASP Assay ID:
554-1819.1 (used for ordering genotyping assays)
KASP Sequence:
CTCTTTCTGCAGCAAGATGCTGAAGCTCTGTGGAGATACAGAGGAGAAGT[T/A]GGCCCAAGAGCTGCTCGTCTTTGAGCTTCAGATTGAAAGAGATGTCGTGG
Long Flanking Sequence:
GATTCCAGCTGAAGTGGGCGGATTGTGAGACGTTTGATTCGGGGGCGTTTTAGGGGTGTGGTTTGCGAGCTACTAGCCCGACAGTGGAAACGCAACATAATTAGGGCCTTACTACTCAACCTTCTGGGCGATTGGCCTTGCCCAATAAAAGCCCTGGCTCGTACTGAGCCTACAGTGGAAATGCGGCTGTTTGGTCCAGACCAAATGCAGCAAACTACAGATGTTAAAGCACCCTAATATAAGTTAGATCAAAAAGCAAAACTCTTTTTATTATAAATTTTATGCTTATGGCTTTGTAATGTTGTAAAAAACACTACTTATGACTTTGTTTATTTTGCTATGAGTGGCATTTTCTGCTCACATATAAGGGATTTTCTGAGATTCACAATAAGATACTAGGATGCAGCTTTGAATACGTCAAGGTCAAATTAGTTTCAGGGTCTGTTTTGACTCTTTCTGCAGCAAGATGCTGAAGCTCTGTGGAGATACAGAGGAGAAGT[T/A]GGCCCAAGAGCTGCTCGTCTTTGAGCTTCAGATTGAAAGAGATGTCGTGGAGCCTCTTTATGTGCTGGCTGAGGTGAGCGTTTATTTCCCTGTCAGTGTTATTCTATCATTTCAGCTGTACGAAAGTTGTCAAATGTATCAACTTTGTTACCAATAAGTACTAAAATGTAAAAAAAAAAAAAAAAAAAACATTCATTTCTCACAAACATTTGATTGATGATGAGTGGATTACCCAACACTGGCCATTGTGCTCACACACTCAACAGATATGAATGTGATTGGCTACAATGATCATCACTTGATGCTCTTCACCATGTTCTTACACATATACACAGACACTAGAGCATTTAAATGTCACTTCTAAACGATTACATCCATGAATAGATATCAGCGATCCACTGATCAATTAGATAAATGCAACTTTTAAACACTGAATGTTGTCCATACATCTGTGTAAGCACTTGGTGGAGAGTTTGAAGAGAGGATTTGTCACCATTCGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12914
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 > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000056127 | Essential Splice Site | 452 | 984 | 15 | 21 |
Genomic Location (Zv9):
Chromosome 3 (position 49847268)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 44541688 |
| GRCz11 | 3 | 48687099 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGAATCATTGAGCCGATCATCCAGCACGCGGACTGGTTCTTCCCTGGAG[G/T]TTGGGACACAAAGAGTTGTGAAAACATATTCGCACATACAGGCGGGKGTT
Long Flanking Sequence:
GGCCAGTTAGTGTATAAGTTTAATTATTTTCAGCTTTTTTACTTTATTTGCATACTTTTAATGGTGCAGAACTTGTTCCCCACAGTATCAAAAATAGTATAGAATATTAATTTCGAAGCTGGAAAGTCCAGAATCATGACAACACTATTGGGTAGGATTAGTAATGTAAAATACAATCATACTTAAGTGCAAGTAAACAGTTTATATTCTTATTATAGGTAGGTAATGAGTCAGAAGTAAATTATGTGAATTGTTACTTTTTATCTTGTATATCTTATACCATACTATACCTTTAAATCAGCATATCTGAATGACATTTTTGGTGAACTGTTTCTTTTAAAACCTCCAGTAGTTTTAAGTTTTTGCTTTGTGGAATGAGTAGCTCCAACGGGTCATTGATCTCCACAGGAACATGACAGAAATGATGACCACCATGTCCCTGCAAATCGTAGGAATCATTGAGCCGATCATCCAGCACGCGGACTGGTTCTTCCCTGGAG[G/T]TTGGGACACAAAGAGTTGTGAAAACATATTCGCACATACAGGCGGGTGTTTTTCCCCGGTGAGAATTGAACTAATTTGTCTTTGCTATTCTTAGAAATTGAGTTCAACCTGACAGGCAGCTACGGCAGCCCAGTGCACACCAACCACAACTCCAACTACAGCTCCATGCCCTCACCAGATATGGACCAATCAGAGCGCAAGCAGCAGCACGACCAGAGCCGACGCCCACTCAGCGTTGCCACCGACAACATGATGCTGGAGTTCTACAAGAAGGACGGGTAGGTTGCTCTGCCTCACTGCTTTCCTCTGCCATGCACTGACATCACCATCCCATGCCACCCTCACTTCTTAAAGGGATAGTTCACCGCAAAATAAAATAAACGTCATCATTTAAAAATCATCTACTTGTCACAAACAGGTTTAAGTTTCTTCTGACAAATGCAAAAGAAGATGTTTTGAAGAATGCTGAGTCATTTCTTTTTGTATTGTATTTTTCTTCT
Associated Phenotype:
Not determined