ENSDARG00000087220

Ensembl ID:
ENSDARG00000087220
Human Orthologues:
MUC12, MUC16, MUC17, MUC20, MUC4, MUC5B
Human Descriptions:
mucin 12, cell surface associated [Source:HGNC Symbol;Acc:7510]
mucin 16, cell surface associated [Source:HGNC Symbol;Acc:15582]
mucin 17, cell surface associated [Source:HGNC Symbol;Acc:16800]
mucin 20, cell surface associated [Source:HGNC Symbol;Acc:23282]
mucin 4, cell surface associated [Source:HGNC Symbol;Acc:7514]
mucin 5B, oligomeric mucus/gel-forming [Source:HGNC Symbol;Acc:7516]
Mouse Orthologues:
Muc20, Muc4
Mouse Descriptions:
mucin 20 Gene [Source:MGI Symbol;Acc:MGI:2385039]
mucin 4 Gene [Source:MGI Symbol;Acc:MGI:2153525]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa7265 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa7265
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 > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000121904 Essential Splice Site 792 891 3 3
Genomic Location:
Chromosome 3 (position 5619916)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGTGTTCTTCGTGTTGTGGCTGTGGTTGGTGTTCTTGGTGTTGTTGCTGT[A/G]GTTGGTGTTCTTGATGTTGTTGTTGTGGTTGGGGTCCTTGATGTTGTTGC
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/y3tqjb1u