DNA Alteration Details

System ID: 155

Gene: MC1R

Chromosome: 11

Variant Type: missense

Deleterious: no

Year Discovered: 2021

Is Defect?: No

Mode of Inheitance: Autosomal Dominant

Reference Sequence: GRCg6a

Variant Source: Naturally occurring variant

Genomic or Mitochondrial: g.18841043T>A

Coding DNA Sequence or Genomic DNA Sequence: c.398T>A

Protein Sequence: p.(L133Q)

Reference Website: Visit website

Verbal Description: a single nucleotide change in the coding DNA sequence of the gene, where the nucleotide T (thymine) at position 398 has been replaced by A (adenine) due to the mutation.

Trait: Disease -> Disease: autosomal

Breeds: Fayoumi