mep1b

Ensembl ID:
ENSDARG00000037533
ZFIN ID:
ZDB-GENE-041014-209
Description:
meprin A, beta [Source:RefSeq peptide;Acc:NP_001070089]
Human Orthologue:
MEP1B
Human Description:
meprin A, beta [Source:HGNC Symbol;Acc:7020]
Mouse Orthologue:
Mep1b
Mouse Description:
meprin 1 beta Gene [Source:MGI Symbol;Acc:MGI:96964]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa3094 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa3094
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000099846 Essential Splice Site 309 677 9 14
Genomic Location:
Chromosome 20 (position 6608679)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGTAGAGGGTGGTCCAAASACAGACTACACCAATCTGGGACAGTGTCAAG[G/A]TATTAACATCACAAAACAACATNNNNNNTAGAGTGCATCTGGAAAGTATT
Associated Phenotype:
Not determined

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/2vdm6erw