cd2apl

Ensembl ID:
ENSDARG00000015224
ZFIN ID:
ZDB-GENE-030131-8078
Description:
CD2-associated protein [Source:RefSeq peptide;Acc:NP_001008583]
Human Orthologue:
CD2AP
Human Description:
CD2-associated protein [Source:HGNC Symbol;Acc:14258]
Mouse Orthologue:
Cd2ap
Mouse Description:
CD2-associated protein Gene [Source:MGI Symbol;Acc:MGI:1330281]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa23766 Essential Splice Site Mutation detected in F1 DNA During 2014
sa10969 Essential Splice Site Available for shipment Available now
sa23767 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa23766
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:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000102611 Essential Splice Site 2 657 None 19
ENSDART00000142932 Essential Splice Site 2 360 None 10
Genomic Location:
Chromosome 20 (position 35882252)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGATTGTACACATCAGATCAAGACGGTCTCGTATCGAAGGACAGTATGGG[T/C]GAGTTTAACTTGCTTCCTATGGGTCACCTAAAATGTCACTCAGCGTTTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10969
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000102611 Essential Splice Site 252 657 6 19
ENSDART00000142932 Essential Splice Site 252 360 6 10
Genomic Location:
Chromosome 20 (position 35956873)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAGAACCTCCCTAAAAGGACCATCTGAAAATATGGAAAAAACAGAAAAAG[T/A]AAGTTGTTTTGCACCTGRCAATGCTTTTATTAGCTYTTTCTTTCNNNNNN
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23767
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000102611 Nonsense 620 657 17 19
ENSDART00000142932 None None 360 None 10
Genomic Location:
Chromosome 20 (position 35997198)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAAAGGATCAGATAAAGGACCTGGTGCTCTCTGTAGAATTACTGAAGACA[C/T]AGCAGTCGTAAGTGGCAGCTTTTTCCATGAGTTTGTTTTTCCTGATATTT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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/h0q4w2x4