ZMP
VWA5A (4 of 4)
Ensembl ID:
Description:
von Willebrand factor A domain containing 5A [Source:HGNC Symbol;Acc:6658]
Human Orthologue:
VWA5A
Human Description:
von Willebrand factor A domain containing 5A [Source:HGNC Symbol;Acc:6658]
Mouse Orthologues:
AW551984, Vwa5a
Mouse Descriptions:
expressed sequence AW551984 Gene [Source:MGI Symbol;Acc:MGI:2143322]
von Willebrand factor A domain containing 5A Gene [Source:MGI Symbol;Acc:MGI:1915026]
von Willebrand factor A domain containing 5A Gene [Source:MGI Symbol;Acc:MGI:1915026]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa6785 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa30169 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa6785
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 > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000004689 | Essential Splice Site | 522 | 804 | 12 | 25 |
Genomic Location (Zv9):
Chromosome 25 (position 302147)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 233781 |
| GRCz11 | 25 | 256534 |
KASP Assay ID:
554-4916.1 (used for ordering genotyping assays)
KASP Sequence:
TCTGAGGTTCAGCTGGTCAACGCTATAGAAGAGAGTTTGAAGAATGCTGG[C/T]GYCCGTCCATATGATGCTGTGGAAGTGGATGGTGAACCAGCATTCTTCAA
Long Flanking Sequence:
CTTCGGGATCGGCGAGGGTGCGAGTACCGCCCTCATCACTGGAATGGCTAAGGAGGGTTCTGGGCACGCTCAGTTCATCACCGGCAGCGACCGCATGCAGCCCAAAGTGAGCAGCAGAACGCGTCTGAGCACTCCGCTAACGCTAACGCTCTGCTCTCCGCTAACGCTAGCGTCTTCTCTCCGCAGGTCATGCAGTCGCTGCGCTTCGCTCTGCAGCCGGCGGTGGAGGAGCTGTGTGTGGACTGGAGGCTGCCGGAGGGTGTATCGGTGGAGCTGCTGTCTCCGCCCGTCCGCTCGCTGTTCCAGGGTCAGAGGGCGCTGCTGTACGGCCGGCTGAGGGGGCAGGTGAGGGTCACAGTCACTCTGAGTCTGGGGTACATCAGGCCTAAGGCACTGATCAGCTGACCATGAGCATCGCCATCGCCCGCTCAGCCTTCACTCCAACAGCGCTCTGAGGTTCAGCTGGTCAACGCTATAGAAGAGAGTTTGAAGAATGCTGG[C/T]GCCCGTCCATATGATGCTGTGGAAGTGGATGGTGAACCAGCATTCTTCAAAACATCTCCCTCTGTGTGCAGCAGTCACAGGTAGGGATGCACCGATACTGTTGTGTTGGAACTGATCCGATCTCGATAACAAAAATCTGAGGATCAACCGATACAGACCCGATCCCAATACAGACCCGATCCCAATAAAGACCCGATCCGGATACAGATCCGATCCTGATACAGACCCGATCCCAATACAGACCCGATCCGGATACAGACCCGATCCCAATACAGACCCGATCCCAATACAAACCCGATCCCGATACAGACCCGATCCCCATACAGACCCAATCCAGATACAGACCCGATTCTGATACAGACCCGATCCGGATACTGAGCCGTTTTGTTTTTAACATAACCCAGAGTCTACAATTCTGCTGATAAACTCAATAATAACCCTTCTCCAGTAAAATAAGACACCTGCCGGCCTGCTGTACACGACACACACACACACACACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa30169
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 |
|---|---|---|---|---|---|
| ENSDART00000004689 | Essential Splice Site | 692 | 804 | 22 | 25 |
Genomic Location (Zv9):
Chromosome 25 (position 305134)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 236768 |
| GRCz11 | 25 | 259521 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCGTCTGCCCCCGTCGTCCTGATGGAGTGTGATTCTGCATCCGCTCAAGG[T/A]ATTCAGTCGTGTGTGTGTGTGTGTGTGTGTGTGTACTTCAGCTGTGTTGA
Long Flanking Sequence:
CTATTATTGTGCGTCTGACGCTCGTGTGTGTGTGTGTGTGTGTGTGTCTTCAGCTCCTCCTATGATGGCGTATGACTGCGCACGCTGTAAGTGGAATATCCTGCTTTCCCTGAGGCTCCTCCTCCTCCTTCTTTATGAATGTCTATAACGTCTGTCTGTGTCAGTTTAATTAGTGCGCCTGACGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCTGTCATCAGCTGCTCGTGTTCCTCTGCGTGCAGGAGGAGGAGGAGACGCCAGTAAGTCAGATACACTCCTGTATAAGTCATGTGATCTCGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACCCAGCCGGACTCTCGGCTCGTCTCTCAGAATGTTCTGCTGTTGTGTTTCAGTGATGTACCGTGAAGCAAAGTCTGCACGGGTCTCTCAGCCGTCTGCCCCCGTCGTCCTGATGGAGTGTGATTCTGCATCCGCTCAAGG[T/A]ATTCAGTCGTGTGTGTGTGTGTGTGTGTGTGTGTACTTCAGCTGTGTTGACCCAGTGCTGACGTGTGCTGTGCTGCAGAACCTGATCACCAGCAGGACCCACTACTCCAGCTGGTGTCCCTGCAGAGCGCCTCGGGCAGCTGGGAGATCAGCAGCGCTCTGTCTGCGGTCCTGGAGAAACCCGAGGAGGAGCTCCGGAAACACACTCCGGCACAGGTGTGTGTGCGTGTGCGTGCGCGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGTCTGTGTGTGTGTGTGTCTGTGTGTGTGTGCGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTCTGTGTGTG
Associated Phenotype:
Not determined