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2 variant records found

[show instead phene records]

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

OMIA ID(s) Species Name Breed(s) Variant Phenotype Gene Allele Type of Variant Deleterious? Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
OMIA 000201-10042 North American deer mouse New Hampshire Melanic (non-agouti) ASIP deletion, gross (>20) no "a 125-kb deletion, which includes the upstream regulatory region and exons 1 and 2 of Agouti, results in a loss of Agouti expression" 2009 19649329
OMIA 000201-10042 North American deer mouse Alaska Melanic (non-agouti) ASIP nonsense (stop-gain) no c.193?>? p.Q65* 2009 19649329
Overall Statistics
Total number of variants 2
Variants with genomic location 0 (0.0% )
Variants in a variant database, i.e. with rs ID 0 (0.0%)
Variant Type Count Percent
deletion, gross (>20) 1 50.0%
nonsense (stop-gain) 1 50.0%
Year First Reported Count Percent
2009 2 100.0%