COBLL1 (2 of 2)

Ensembl ID:
ENSDARG00000089858
Description:
COBL-like 1 [Source:HGNC Symbol;Acc:23571]
Human Orthologue:
COBLL1
Human Description:
COBL-like 1 [Source:HGNC Symbol;Acc:23571]
Mouse Orthologue:
Cobll1
Mouse Description:
Cobl-like 1 Gene [Source:MGI Symbol;Acc:MGI:2442894]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa40641 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa40641
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:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000125672 Nonsense 327 334 7 8
Genomic Location (Zv9):
Chromosome 6 (position 10265194)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 10119001
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAAACGGAGAGCTCCGCCTCCACCGTGTGATGGCTCCGCCTCTACAAAAT[C/A]AGACAACAAAGGTATGCATTAATTTTGTTTGTAGCTGTTAATGCCATTGT
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/.)

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