TSPAN17

Ensembl ID:
ENSDARG00000053183
Description:
tetraspanin 17 [Source:HGNC Symbol;Acc:13594]
Human Orthologue:
TSPAN17
Human Description:
tetraspanin 17 [Source:HGNC Symbol;Acc:13594]
Mouse Orthologue:
Tspan17
Mouse Description:
tetraspanin 17 Gene [Source:MGI Symbol;Acc:MGI:1921507]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa5873 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa5873
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 2014.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000101132 Essential Splice Site 35 209 3 8
Genomic Location:
Chromosome 14 (position 51923615)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACATGGTCAGCAACAAAAATTTCATTTTTTGGGAGAACCATCCCTTTAAT[G/T]AGCTGCTGGTRAAAATGTCAAACAATCAAAGATCACAGATTTTAGACKAG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/q3fpqco9