MCTP2 (1 of 2)

Ensembl ID:
ENSDARG00000073970
Description:
multiple C2 domains, transmembrane 2 [Source:HGNC Symbol;Acc:25636]
Human Orthologue:
MCTP2
Human Description:
multiple C2 domains, transmembrane 2 [Source:HGNC Symbol;Acc:25636]
Mouse Orthologue:
Mctp2
Mouse Description:
multiple C2 domains, transmembrane 2 Gene [Source:MGI Symbol;Acc:MGI:2685335]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa20880 Splice Site, Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa20880
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 > A
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109942 Splice Site, Nonsense 286 665 8 20
Genomic Location:
Chromosome 7 (position 16536856)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACCCCGCCTCTGGAGGACCCTGAGGAGAAAGAAAACATACTGGCTAAATA[T/A]GTATGTTAAACCACAGTGCTGCTTTTAATATCTATAACCAGGCGTAGGGC
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/k3gqimxl