ENSDARG00000089465

Ensembl ID:
ENSDARG00000089465
Human Orthologues:
MUC17, MUC5B
Human Descriptions:
mucin 17, cell surface associated [Source:HGNC Symbol;Acc:16800]
mucin 5B, oligomeric mucus/gel-forming [Source:HGNC Symbol;Acc:7516]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa3823 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa3823
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:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128945 Essential Splice Site 24 1246 3 8
Genomic Location:
Chromosome 12 (position 47008153)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TAATTTAAAACAGTTTYATTCAYACACTTTTATTGTAATGTTTCCATAAC[A/T]GACCCTTGCAAAACGTACAATGTGCTGGAGAACCGCTGGAGAGCCACCAA
Associated Phenotype:
Not determined

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