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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch211-195k18.2
- Ensembl ID:
- ENSDARG00000057649
- ZFIN ID:
- ZDB-GENE-031010-36
- Description:
- hypothetical protein LOC378993 [Source:RefSeq peptide;Acc:NP_001073631]
- Human Orthologue:
- SATB1
- Human Description:
- SATB homeobox 1 [Source:HGNC Symbol;Acc:10541]
- Mouse Orthologue:
- Satb1
- Mouse Description:
- special AT-rich sequence binding protein 1 Gene [Source:MGI Symbol;Acc:MGI:105084]
Alleles
There are 4 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa17302 | Nonsense | Available for shipment | Available now |
| sa43265 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
| sa12761 | Nonsense | Available for shipment | Available now |
| sa16271 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa17302
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
-
Order Allele From ZIRC
Order Allele From EZRC - Mutation:
- C > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000056205 | Nonsense | 62 | 728 | 3 | 11 |
- Genomic Location (Zv9):
- Chromosome 19 (position 20963009)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 19 20896389 GRCz11 19 20480712 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AATATAGTTCCTCTTTCTTTCAACGCAGGTAGTTTACTTCCAGTATTYTG[C/A]ATGGTGGAAMAAAGCGATGTCCCACCAWCCGAAGGGAAGCGGTCGGAGCA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa43265
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- A > T
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000056205 | Essential Splice Site | 156 | 728 | 5 | 11 |
- Genomic Location (Zv9):
- Chromosome 19 (position 20954472)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 19 20887852 GRCz11 19 20472175 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTCTTTCTT[A/T]GTGTTTCTAAATTAGAGGACTTGCCCGCTGAGCAATGGACTCATTCTACA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa12761
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
-
Order Allele From ZIRC
Order Allele From EZRC - Mutation:
- C > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000056205 | Nonsense | 286 | 728 | 7 | 11 |
- Genomic Location (Zv9):
- Chromosome 19 (position 20949792)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 19 20883172 GRCz11 19 20467495 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AGATGCAGGCTGGGATGCCTGGTCTAGTTATGGCTCAGCTTCTCTCMCAG[C/T]AACACGCCATGTCTCAGCTCCTCACACACGCTCACACCCACTCACACATA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa16271
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
-
Order Allele From ZIRC
Order Allele From EZRC - Mutation:
- T > G
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000056205 | Essential Splice Site | 479 | 728 | 9 | 11 |
- Genomic Location (Zv9):
- Chromosome 19 (position 20944334)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 19 20877714 GRCz11 19 20462037 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AAAAGTGTCACAGGCCTTGTTTGCAAAAGYCTCTGCAGCCAAGAGTCAGG[T/G]AAATAWATACAKGAGAGATCGAATACATTTAGGCWAATTAAAAACCATGA
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Platelet counts: New gene functions in megakaryopoiesis and platelet formation. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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