DNA Alteration Details

System ID: 120

Gene: LMBR1

Chromosome: 2

Variant Type: regulatory

Deleterious: yes

Year Discovered: 2010

Is Defect?: Yes

Mode of Inheitance: Autosomal Dominant

Reference Sequence: GRCg6a

Variant Source: Naturally occurring variant

Genomic or Mitochondrial: g.8553470G>T

Coding DNA Sequence or Genomic DNA Sequence: c.-469+4645C>A

Protein Sequence:

Reference Website: Visit website

Verbal Description: a single nucleotide change located in the non-coding region of the gene, specifically in the intronic region located 469 nucleotides upstream of the transcription start site and 4,645 nucleotides downstream of the transcription start site. The original nucleotide C (cytosine) at this position is replaced by A (adenine).

Trait: Disease: Polydactyly

Breeds: NA