LOC566448

Ensembl ID:
ENSDARG00000058853
Human Orthologue:
SASH1
Human Description:
SAM and SH3 domain containing 1 [Source:HGNC Symbol;Acc:19182]
Mouse Orthologue:
Sash1
Mouse Description:
SAM and SH3 domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1917347]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa15107 Essential Splice Site Available for shipment Available now
sa42866 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa15107
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:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081797 Essential Splice Site 383 1021 10 20
Genomic Location (Zv9):
Chromosome 17 (position 6789292)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 6859096
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACCGATGGGGAGATGAGGAGAGCACTCAACCCAGCCAACTACCATGGAG[T/C]GAGTAMTAGTACCATTATTATTAACTTTAGTACTGTTTGYTTTATTTGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42866
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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081797 Nonsense 484 1021 13 20
Genomic Location (Zv9):
Chromosome 17 (position 6801619)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 6854152
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGTCTCCTCACACAGACACAGACTCTCTGGAGAAACCCAAGCTGAAGGCT[G/T]GAGGATCAGTGGAGAGTTTGAGGAGCTCGCTCAGCGGACAGAGTTCCATG
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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