her6

Ensembl ID:
ENSDARG00000006514
ZFIN ID:
ZDB-GENE-980526-144
Description:
transcription factor HES-1 [Source:RefSeq peptide;Acc:NP_571154]
Human Orthologues:
HES1, HES4
Human Descriptions:
hairy and enhancer of split 1, (Drosophila) [Source:HGNC Symbol;Acc:5192]
hairy and enhancer of split 4 (Drosophila) [Source:HGNC Symbol;Acc:24149]
Mouse Orthologue:
Hes1
Mouse Description:
hairy and enhancer of split 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:104853]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa38559 Essential Splice Site Mutation detected in F1 DNA During 2016
sa20748 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa38559
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 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023613 Essential Splice Site 36 270 1 4
ENSDART00000114279 Essential Splice Site 99 331 2 7

The following transcripts of ENSDARG00000006514 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 6 (position 36331007)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 36574541
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCATGAACACTACACCTGATAAACCCAAAACGGCTTCGGAACACAGAAAG[G/A]TTGGTATTGATATTAAGCTACGAACTATAGTGCTTCAAGAAGTGATTAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20748
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023613 Essential Splice Site 68 270 2 4
ENSDART00000114279 Essential Splice Site 131 331 3 7

The following transcripts of ENSDARG00000006514 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 6 (position 36330824)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 36574358
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAAGCTTGGGTCAGCTGAAAACGTTAATCTTGGATGCTCTGAAAAAAGAT[G/A]TAAGTACCGAAAGTCCGACTGAGTCTTTCAGTTAGGCTATATCTGGCTGG
Associated Phenotype:
Not determined

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