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 2017
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:
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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
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 2017.
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
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
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
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:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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