LOC100329766

Ensembl ID:
ENSDARG00000089887
Human Orthologue:
MMP20
Human Description:
matrix metallopeptidase 20 [Source:HGNC Symbol;Acc:7167]
Mouse Orthologue:
Mmp20
Mouse Description:
matrix metallopeptidase 20 (enamelysin) Gene [Source:MGI Symbol;Acc:MGI:1353466]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa42554 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa42554
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 2017.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124677 Essential Splice Site 350 473 7 11
Genomic Location (Zv9):
Chromosome 15 (position 24880897)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 25614509
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGATGCAGCTTATGACATTCCTTCGCAACGAGTGGCATATGTTTTCACAG[G/A]TAACCAAAAATACTGCCTTCCTATCTACTGCGAACACTGCAATTAACAGT
Associated Phenotype:
Not determined

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