ENSDARG00000086918

Ensembl ID:
ENSDARG00000086918
Mouse Orthologue:
Pecam1
Mouse Description:
platelet/endothelial cell adhesion molecule 1 Gene [Source:MGI Symbol;Acc:MGI:97537]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa9482 Nonsense Available for shipment Available now
sa18840 Nonsense Mutation detected in F1 DNA During 2015
sa20681 Nonsense Mutation detected in F1 DNA During 2015
sa20680 Nonsense Mutation detected in F1 DNA During 2015
sa26725 Essential Splice Site Mutation detected in F1 DNA During 2015

Mutation Details

Allele Name:
sa9482
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129504 Nonsense 260 686 5 12
ENSDART00000129504 Nonsense 260 686 5 12
Genomic Location:
Chromosome 6 (position 19743680)
KASP Assay ID:
2259-7416.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TAACCTTCAGCTGCAATGTGGATATGACTTATCAAAAAAATTCWGAACTT[A/T]GAATCAGTCTTGTCCATGGACATACCACACTCGGTTTGAATATGRGACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18840
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 2015.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129504 Nonsense 260 686 5 12
ENSDART00000129504 Nonsense 260 686 5 12
Genomic Location:
Chromosome 6 (position 19743680)
KASP Assay ID:
2259-7416.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAACCTTCAGCTGCAATGTGGATATGACTTATCAAAAAAATTCTGAACTT[A/T]GAATCAGTCTTGTCCATGGACATACCACACTCGGTTTGAATATGGGACAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20681
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 2015.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129504 Nonsense 277 686 5 12
Genomic Location:
Chromosome 6 (position 19743629)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAATCAGTCTTGTCCATGGACATACCACACTCGGTTTGAATATGGGACAG[A/T]AAACTTACAATATGTCTGCTAAAGCCAATGACTCTGGGCAATATGAGTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20680
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 2015.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129504 Nonsense 476 686 7 12
Genomic Location:
Chromosome 6 (position 19742707)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCTTTATAGCCATGATATCAGCTCCCTCAGACATCAGCAGTTACTTTTGT[G/T]AAGCAGAGAATAATGGCAAAATCTCAGTCAAGATGAGTCAAAGGCTAAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa26725
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 2015.
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129504 Essential Splice Site 624 686 10 12
Genomic Location:
Chromosome 6 (position 19729462)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTTGCAAATAAATGCTTGCACTTCAAATGCAATAATTTTGCTGTTTTTC[A/T]GTGGGAGTTAATAATAAAGAAAGTGTTTGGAGTGAAAAACCTCCAGGTAA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/jisztl57