ZMP
LOC568033
Ensembl ID:
Human Orthologue:
SV2A
Human Description:
synaptic vesicle glycoprotein 2A [Source:HGNC Symbol;Acc:20566]
Mouse Orthologue:
Sv2a
Mouse Description:
synaptic vesicle glycoprotein 2 a Gene [Source:MGI Symbol;Acc:MGI:1927139]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa5627 | Essential Splice Site | F2 line generated | Not yet available |
| sa2868 | Essential Splice Site | F2 line generated | Not yet available |
Mutation Details
Allele Name:
sa5627
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083919 | Essential Splice Site | 452 | 734 | 7 | 12 |
| ENSDART00000083919 | Essential Splice Site | 452 | 734 | 7 | 12 |
Genomic Location (Zv9):
Chromosome 16 (position 49249824)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 46219045 |
| GRCz11 | 16 | 46185761 |
KASP Assay ID:
554-3143.1 (used for ordering genotyping assays)
KASP Sequence:
GCAGGATCACCTACATGATGATGGCCGTGTGGTTTTCCATGTCCTTCAGG[T/C]ACACTATGCAATATTTRGCTTCCAGCAGCTTCCAGTGATATTTTTCCCTC
Long Flanking Sequence:
CCATTAAGACAGTGAAGCAGATGGATGAGTTGGTTGACATGGGTGGAGAAGCCACAGCCTGGCACCAGCGCTGGAGGATCAAACTCACGAACCTCTTCCACCAGGTAGAGTGAAGACGTCTGATTCGCTTCTGTGAACTGATGATTGATAAAATGCAACAGCTATGCAAAATGCAATACAGGCAATGCGAAAATAATCCCGGTGATACATTGAGGTCTTAAAGTCCGCATGAAAGTATTTAAGATTTTAGTATGACTGTTGTTAGTTTTTAGGATAACTTGTTTTGTTTAGGAGACATGGAAAATGTGCAGAGCTGACGGTCCTCCAGGAACATGGTTGAGAAACACTGATCTAATACACTTACTCGCATACAACATTTATTTTTATAATTTGTTGTTCTGGGTTTCCAGGTGTGGGGCAACTTCCTGACAGTGTTCAACCCTGAGTATCGCAGGATCACCTACATGATGATGGCCGTGTGGTTTTCCATGTCCTTCAGG[T/C]ACACTATGCAATATTTGGCTTCCAGCAGCTTCCAGTGATATTTTTCCCTCTGCATGACTTCATGTCTGTCGTCCTCTGCCTGCAGCTACTACGGCTTGACTGTTTGGTTCCCCGATATGATCAAATATCTGCAGAAACAGGAGTACTCCTCACGCACAAAGGTCTTCATCAAAGAGAAAGTGGAGCATGTGACCTTTAACTTCACGCTGGAGAACCAGATCCACCGGAATGGAGAGTACTTTAACAACAAGTAAGTGACGCTCACAGGCAGTATGCTAAACATATTTCAGTAAACACTGCTGACCTTTCGGTAAGAGATGGGTGGTGTTGTGATATTCTGCTTGGTTTAAATAAATATTCCAGATTGAATGCTATATCAGTGTGATTGAACAGCCTCGTTTTTTTTTTTTTTTTTTTCTAAGTTTCTCTTGCACAGTGAAAATTGTTTAGCAGTTTAGTCGAACAGAATTGAAAAGTCTCTCAAGCAATATTTTCTTTAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa2868
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083919 | Essential Splice Site | 452 | 734 | 7 | 12 |
| ENSDART00000083919 | Essential Splice Site | 452 | 734 | 7 | 12 |
Genomic Location (Zv9):
Chromosome 16 (position 49249824)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 46219045 |
| GRCz11 | 16 | 46185761 |
KASP Assay ID:
554-3143.1 (used for ordering genotyping assays)
KASP Sequence:
GCAGGATCACCTACATGATGATGGCCGTGTGGTTTTCCATGTCCTTCAGG[T/C]ACACTATGCAATATTTRGCTTCCAGCAGCTTCCAGTGATATTTTTCCCTC
Long Flanking Sequence:
CCATTAAGACAGTGAAGCAGATGGATGAGTTGGTTGACATGGGTGGAGAAGCCACAGCCTGGCACCAGCGCTGGAGGATCAAACTCACGAACCTCTTCCACCAGGTAGAGTGAAGACGTCTGATTCGCTTCTGTGAACTGATGATTGATAAAATGCAACAGCTATGCAAAATGCAATACAGGCAATGCGAAAATAATCCCGGTGATACATTGAGGTCTTAAAGTCCGCATGAAAGTATTTAAGATTTTAGTATGACTGTTGTTAGTTTTTAGGATAACTTGTTTTGTTTAGGAGACATGGAAAATGTGCAGAGCTGACGGTCCTCCAGGAACATGGTTGAGAAACACTGATCTAATACACTTACTCGCATACAACATTTATTTTTATAATTTGTTGTTCTGGGTTTCCAGGTGTGGGGCAACTTCCTGACAGTGTTCAACCCTGAGTATCGCAGGATCACCTACATGATGATGGCCGTGTGGTTTTCCATGTCCTTCAGG[T/C]ACACTATGCAATATTTGGCTTCCAGCAGCTTCCAGTGATATTTTTCCCTCTGCATGACTTCATGTCTGTCGTCCTCTGCCTGCAGCTACTACGGCTTGACTGTTTGGTTCCCCGATATGATCAAATATCTGCAGAAACAGGAGTACTCCTCACGCACAAAGGTCTTCATCAAAGAGAAAGTGGAGCATGTGACCTTTAACTTCACGCTGGAGAACCAGATCCACCGGAATGGAGAGTACTTTAACAACAAGTAAGTGACGCTCACAGGCAGTATGCTAAACATATTTCAGTAAACACTGCTGACCTTTCGGTAAGAGATGGGTGGTGTTGTGATATTCTGCTTGGTTTAAATAAATATTCCAGATTGAATGCTATATCAGTGTGATTGAACAGCCTCGTTTTTTTTTTTTTTTTTTTCTAAGTTTCTCTTGCACAGTGAAAATTGTTTAGCAGTTTAGTCGAACAGAATTGAAAAGTCTCTCAAGCAATATTTTCTTTAG
Associated Phenotype:
Not determined