C2orf71

Ensembl ID:
ENSDARG00000037656
Description:
chromosome 2 open reading frame 71 [Source:HGNC Symbol;Acc:34383]
Human Orthologue:
C2orf71
Human Description:
chromosome 2 open reading frame 71 [Source:HGNC Symbol;Acc:34383]
Mouse Orthologue:
BC027072
Mouse Description:
cDNA sequence BC027072 Gene [Source:MGI Symbol;Acc:MGI:2385061]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa23179 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa23179
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
ENSDART00000054850 Nonsense 390 960 3 7
Genomic Location:
Chromosome 17 (position 47972916)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAGAAGATCCAACACTCATTGAACTTGAGAGAACTCAAAAGGAGCTCAAT[C/T]AAAAGCTGGAAAGGATGACAAAGGTTAAGGGGGAAGGAAATAAAAGGCAG
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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* quick link - http://q.sanger.ac.uk/n26mjz8t