CRISPLD2

Ensembl ID:
ENSDARG00000088595
Description:
cysteine-rich secretory protein LCCL domain containing 2 [Source:HGNC Symbol;Acc:25248]
Human Orthologue:
CRISPLD2
Human Description:
cysteine-rich secretory protein LCCL domain containing 2 [Source:HGNC Symbol;Acc:25248]
Mouse Orthologue:
Crispld2
Mouse Description:
cysteine-rich secretory protein LCCL domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1926142]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa27098 Splice Site, Nonsense Mutation detected in F1 DNA During 2015
sa21136 Essential Splice Site Mutation detected in F1 DNA During 2015

Mutation Details

Allele Name:
sa27098
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:
C > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000130227 Splice Site, Nonsense 345 512 9 14
Genomic Location:
Chromosome 7 (position 70247863)
KASP Assay ID:
2259-9789.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AATTTTTATTCGTTAATCAATAAATTTTCTTTCTCCTTTTGTGTTTGCAG[C/T]AATCGAGTATTTGCCGTGCTGCTATTCACTATGGAGTAATTGATAACAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21136
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:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000130227 Essential Splice Site 388 512 9 14
Genomic Location:
Chromosome 7 (position 70247995)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCTTCCCGTTCTTCGTAAAGGCAACCAAAAACGGCGTAGAGTCTTTCAGG[T/G]AATCAGAAAATAACCGTAAATTAGCAGTTATCTGTATTTTGTGATTCATG
Associated Phenotype:
Not determined

GWAS

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

  • Height: Many sequence variants affecting diversity of adult human height. (View Study)

(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/nsng2dke