ZMP
wasb
Ensembl ID:
ZFIN ID:
Description:
Wiskott-Aldrich syndrome (eczema-thrombocytopenia) b [Source:RefSeq peptide;Acc:NP_956232]
Human Orthologue:
WAS
Human Description:
Wiskott-Aldrich syndrome (eczema-thrombocytopenia) [Source:HGNC Symbol;Acc:12731]
Mouse Orthologue:
Was
Mouse Description:
Wiskott-Aldrich syndrome homolog (human) Gene [Source:MGI Symbol;Acc:MGI:105059]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa1001 | Essential Splice Site | Available for shipment | Available now |
| hu3279 | Nonsense | Available for shipment | Available now |
| sa16049 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa1001
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 |
|---|---|---|---|---|---|
| ENSDART00000039080 | Essential Splice Site | 152 | 479 | 5 | 12 |
| ENSDART00000139084 | Essential Splice Site | 23 | 271 | 2 | 7 |
Genomic Location (Zv9):
Chromosome 8 (position 24425851)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 23551669 |
| GRCz11 | 8 | 23572908 |
KASP Assay ID:
554-0905.1 (used for ordering genotyping assays)
KASP Sequence:
GTTTTTACATTTAAATATTTAGAAAAAAGACAGCATGCTCCATCTGAAGG[T/A]ATGCRTCTAGAGTTTAAACATACACTTGGTCTGAATTGTAAKATTAGAAT
Long Flanking Sequence:
TTACATGCTGCAGTTCACTTGCCACTGGTCTTCGAATTTTACTCAAAGCTGCTTTAATGCTCATTGTATGTTTTTTTTTTTTACATTTGAAGTCAAGTTAAAGCCCCCTCTGAAGTATAATAAGGAAATTTAGCGATCCCCAACCACTCAGTTAATTTAAAGCCACTGATTTAAACTTAAACTGTATCAGATTTTTATTTCTGGCAGCAAAATTTAAATCTCACCAACTGAAAGATCTAATATATTGAAATGCTTCTTCTGTTTCAGGACTGTCAAGTAGGTTTGAACTTTGCCAGTGAGACAGAAGCCGACCTGTTCAGAAATATCACAGAAGAAAAGATTAATCAGAGAACAAACCGCCAGGGTCAGTACCTGTCACTCACATCTGCTCATTGTTATTCATAAATACATGCTCAAATATAAGGGTTTTATTAATATCATTTTGTGTCTGTTTTTACATTTAAATATTTAGAAAAAAGACAGCATGCTCCATCTGAAGG[T/A]ATGCATCTAGAGTTTAAACATACACTTGGTCTGAATTGTAATATTAGAATGTAAACAATGGTTTTATTTTGATCAACAGATAAACGGCCGCTACCACAAATCCCTCCACCAAATGGTGAGTCACTTTTAAAAGATTTAAATCCCTCAGGCACAAATGACATGCATTTTACTCATCCTCATGTCATTTCAAACAGACTTCTGTGGAACTCAAACTAGTTTTTCCACACTGTAAAAAAGAATTGCCTGCACATCATTAGTGTTTTGCATTTTATTACATTATTGTATCACAGCAAGGAACATTAATCTCTGCTCTGACTTATTTTGATTTTGATAAATTAGAAGCACTTTACAATAAAGCTCCTTCAGATATTGTTGATAAATTTACTACATAAATTAAACAAGGAACAATAAATTTCTTACAGTATTTTCTCCTTTTTCCTAATGTAAATTAATGAAAATAAAACTAAATTTTTTTGTCACACAACTTTGAATTTTATCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
hu3279
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000039080 | Nonsense | 320 | 479 | 10 | 12 |
| ENSDART00000139084 | Nonsense | 182 | 271 | 7 | 7 |
Genomic Location (Zv9):
Chromosome 8 (position 24420683)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 23546501 |
| GRCz11 | 8 | 23567740 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCTCCTCCACCTCGTGGTGGGCTTTCCTCAGTCCCTGGACCAACCGGA[C/T]GACCTCCACCACCATCACGCAGTCCGGGACCCCCACATCGTGGTCCACCA
Long Flanking Sequence:
TAAGTCAAAGGTTTTGATATCAGTTCAAATACTCAGTTATGTAAAAATTGCTGTGTAGAATACCTACAGCTGAAGTTGTTTCAGGTAAAAGTAAAAATAGAGCTAAAAAAATACAATCAAAAAAGTAAAAATACCCCAAAATTACTCTTCAGTCACAGTAAGGCCAGTACTTTCCACTCTTGCATATAGCATCACTGTTTTCACAAAAGCATAGATATATATTGGCACAATAATATGTCCCAGTGGTACTGTTTTTGTAAAGTTAAATGTTTAGGCCTCAAAAATGCTGTTGCTGTGTACATGAACAGCCAAAACGAACATGTTTTCATTTTTCAGAAAAGTCTTCTTATGTAAAATGATTTTTAAATCTGTTTTCATCGTGCCCTTTGATAATACTTAGTCATTCTGACTCTCTCTGTCCAGTCCCAGGAGGTCCTCGTTCTGCTCCTGCACCTCCTCCACCTCGTGGTGGGCTTTCCTCAGTCCCTGGACCAACCGGA[C/T]GACCTCCACCACCATCACGCAGTCCGGGACCCCCACATCGTGGTCCACCACCCCCTGCGCCACATTGTAACCGCTCTGGACCTCCACCACCACCACCACCTAGCCAGAGTCACAAACCACCTCCTCCACCTATGGGTGCATGTGCTCCTCCTCCACCACCGCCTCCACCTCCTCCACCTTCCTCGTCCGGTAACTTCTCCAGTAGCCCCGTAAGCTCAGCTCCACCTCCTCCTCCCCCCTCTGGTGGTGGTGGTGGGGGTGGAGGGAGAGGAACTTTACTGGAGGAAATTCGGCGTGGACGTGTGCTAAAAAATGTATGTGAGACATTATCATGTAAAAAAAACGCAATGCACTTTGTTAAATTGTTAATATACACACACACACACACACACACACACATAAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGATTCTCTATTATGACAATATATATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16049
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 |
|---|---|---|---|---|---|
| ENSDART00000039080 | Essential Splice Site | 424 | 479 | 10 | 12 |
| ENSDART00000139084 | None | None | 271 | None | 7 |
Genomic Location (Zv9):
Chromosome 8 (position 24420367)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 23546185 |
| GRCz11 | 8 | 23567424 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GMGAGGAACTTTACTGGAGGAAATTCGGCGTGGACGTGTRCTAAAAAATG[T/C]ATGTGAGACATTATCATGTAAAAAAAAYGCAATGCACTTTGTTWAATTGT
Long Flanking Sequence:
AACATGTTTTCATTTTTCAGAAAAGTCTTCTTATGTAAAATGATTTTTAAATCTGTTTTCATCGTGCCCTTTGATAATACTTAGTCATTCTGACTCTCTCTGTCCAGTCCCAGGAGGTCCTCGTTCTGCTCCTGCACCTCCTCCACCTCGTGGTGGGCTTTCCTCAGTCCCTGGACCAACCGGACGACCTCCACCACCATCACGCAGTCCGGGACCCCCACATCGTGGTCCACCACCCCCTGCGCCACATTGTAACCGCTCTGGACCTCCACCACCACCACCACCTAGCCAGAGTCACAAACCACCTCCTCCACCTATGGGTGCATGTGCTCCTCCTCCACCACCGCCTCCACCTCCTCCACCTTCCTCGTCCGGTAACTTCTCCAGTAGCCCCGTAAGCTCAGCTCCACCTCCTCCTCCCCCCTCTGGTGGTGGTGGTGGGGGTGGAGGGAGAGGAACTTTACTGGAGGAAATTCGGCGTGGACGTGTGCTAAAAAATG[T/C]ATGTGAGACATTATCATGTAAAAAAAACGCAATGCACTTTGTTAAATTGTTAATATACACACACACACACACACACACACACATAAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGATTCTCTATTATGACAATATATATGGTGTTTATCTATTAGGTGTCTGAATCCCCGGACCCCAACCCTCCAGCTCAAGAGGAATCCTCAGAGGGAATTGTGGGAGCTTTGATGATGGTGATGCAGAAAAGGAGTAAAGTTATCCATTCATCAGGTAACTCATTTAATAAACCTCACAGTCAGCATGAAATGGAAGCTAAGATTGTCCTTTCCCCCCTATAGTGACGTTTATCCTTTAAAGATGGTTTCTGAAATAAAAATAAAAGGTAGCGTGGTGCAAGATTTGATACTGATTGTATCATTAGAAGATCGGTGTTGCAAACAAAATGGAGGCGCATTTGAA
Associated Phenotype:
Not determined