LOC100149858

Ensembl ID:
ENSDARG00000075759
Human Orthologue:
SAMD4A
Human Description:
sterile alpha motif domain containing 4A [Source:HGNC Symbol;Acc:23023]
Mouse Orthologue:
Samd4
Mouse Description:
sterile alpha motif domain containing 4 Gene [Source:MGI Symbol;Acc:MGI:1921730]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa3996 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa3996
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108999 Nonsense 399 685 6 12
Genomic Location:
Chromosome 17 (position 14932036)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CATCCATTTATTTGTCATCTCTCCCTCTCGCTCTTGCTTTCAGGATGTTT[T/A]GGAGGGAGGGAATCTACGTGCTCCATTGCAAGAGCTCCACCAGATCATCC
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

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* quick link - http://q.sanger.ac.uk/qs8vx738