ZMP
LOC563252
Ensembl ID:
Human Orthologue:
CBFA2T3
Human Description:
core-binding factor, runt domain, alpha subunit 2; translocated to, 3 [Source:HGNC Symbol;Acc:1537]
Mouse Orthologue:
Cbfa2t3
Mouse Description:
core-binding factor, runt domain, alpha subunit 2, translocated to, 3 (human) Gene [Source:MGI Symbo
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa1754 | Nonsense | Available for shipment | Available now |
sa38643 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa1754
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 |
---|---|---|---|---|---|
ENSDART00000021009 | Nonsense | 188 | 598 | 4 | 11 |
Genomic Location (Zv9):
Chromosome 7 (position 56934812)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 55370138 |
GRCz11 | 7 | 55671549 |
KASP Assay ID:
554-1747.1 (used for ordering genotyping assays)
KASP Sequence:
TACTTCACTGTGCTCGGATGGCTAAGCAGACCCCAGCCCAGTATCTGGCC[C/T]AACATGAACAGCTTCTGCTGGATGCCAATGCCATCTCTCCCCTGGACTCC
Long Flanking Sequence:
TGTTGAACTACTTAATATCCAATCGTCCGCATATGCCGTGTTTTGGATACTGGTCCCCAACTTGGTGCGATGCCTGTGTAGCCTCGCCTGAAAGACAACATTCAAACAGCTGACTAGATTAACCAGCTTAGTATTAAACCAATTAGATAAGTAACCCAATAACTCATACAGTACTAACCCACTAATGCACAAAGACATTCTGGTCAGCGATGTTTATAAACTGTACAATCACAAATAATCAGTTTTACTAGCAAACTAGGCTGACTAGCAAGAATTATTTAGTTAAAGAACTTCCAGGTCAATCAGCTTCACTAGACCGGATTTGGTACAATGGCTTAGCAAGACTAAAGATAAAGAGCTCTACTTTGAATGTTTTATCAAATTCAAAATTTTATGAATCCAATTTTCTTTCCTTTTGGCAGGCTAACTTACCCCTCCTGCAGAGGGAGCTACTTCACTGTGCTCGGATGGCTAAGCAGACCCCAGCCCAGTATCTGGCC[C/T]AACATGAACAGCTTCTGCTGGATGCCAATGCCATCTCTCCCCTGGACTCCTCTGAGATCATGCTGGAACTCAACGAGCATGGCAAGAGACGTACCCCAGACAGGTACACACACATAAACTTGTCTTTCTGTGTACCATTTTTATAACAAATACCTTAGGTCATAAATATCTACAAAGTCAAGCAAAAGGTAAAAATGTAGACAGCTATGGTAAATGTCAACACAACCTTGCCCTGGGCATTCTTCTTCCTGTCTGGCTTTGAAATGCACACAGCGTCAATGTAATGAGTGGAGGTTGTGGGAAGGTTAGGCCACACAGAAAGAGACTGTGAGGTGGGCAGTGGGAAGGTGGAAATGAAAGTGACATATTTGCCAGGTGGTGCCAGCTACCTGTGGAGTAGAAATGGACTGATATGCTCTAGCATCACAAAAAAAAAACATAGTCCATTTTCTTTACATACAATAGTGAGACATCTAGCAATCTAGACAGTCAGAATATTT
Associated Phenotype:
Normal
Stage | Entity | Quality | Tag |
---|---|---|---|
Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa38643
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000021009 | Essential Splice Site | 420 | 598 | 7 | 11 |
Genomic Location (Zv9):
Chromosome 7 (position 56931823)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 55367149 |
GRCz11 | 7 | 55668560 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAACTCTTCCTCCTCCAACACTCCTAACAGCAGCGAAACACAGCCGCTAG[G/A]TACATGCACCGCTGCAGATGCAGCCACAGGCGCAGATGCTTGGCACGCAG
Long Flanking Sequence:
CCACTGGCAGCACAGCTGTTGCAGGGGCTATTGTTGCTTAACCACTCAACCGCTCACTGCACCATTGGATTACACACACACGTATGCACACAAAGTGTTCGAAATATCTTGTGCTTATGGTACTCACTATTTTATCAGATCTCTCAATAAAAAATAAAAAAAAACAGAAGGTGCGTTGTGGAAATGTTAGTGTGGACTAAGTGGTCTAATGTTGCTGTATAACATCCTCTTCAACTGTCTCCAATCTCTTTCTATTTGTTTCTCTCTGTAGTTGCTGAACTGTATCATGGATATGGTGGAGAAGACGCGGCGTTCCCTTACCGTGCTGCGACGCTGCCAGGAGGCAGACCGGGAGGAGATGAACCACTGGATCCGTCGCTATAGCGACGTGGAGGATATGAAAAAAGGTGGGAGCTCCGCCCAGCGGCCTCCTCCTCTTCCTCCCCACCACAACTCTTCCTCCTCCAACACTCCTAACAGCAGCGAAACACAGCCGCTAG[G/A]TACATGCACCGCTGCAGATGCAGCCACAGGCGCAGATGCTTGGCACGCAGCATGTCTCTCACATTTTTAGCAGCTGCAGACACCGTCCTCTTCTAAGTAGTTTTCATCAGCCAACATACCACTCTGATGAACATGATTTGAAACTAGGCTTCAAGCCTGATTTTTTCAGACTAGTCTGCATGTAATCCTGCGTCTAGCCTACCATAGCTACATAGCTTTTCTATGACTTTGTCTAGAGCAGTTAATCCTTCTCTGTCACTCCATGTTCATGTTTTGAGGGACCCAGAGTACTACATTTAAATGTGTCTGCAAGTTAGCACACCCGAATCCACTCACTAGGTCATTAATACAGCGATGTATGATTTAAATTTGGTGGCAGTTAAGGGAGAAATCCAATATGTGCAGTACTGTTGGTTCTTGCAAGTAGGGTTGGAAACGCTTGCTGTATCCAAAATCGCCCCCTATACTCTCATTCACTAGACCCTACTTTAGTCCACTTG
Associated Phenotype:
Not determined