Allele/Variant

Abcc6rs32756904-T

Species
Mus musculus
Symbol
Abcc6rs32756904-T
Category
allele
Allele of gene
Abcc6
Transgenic Constructs
None
Synonyms
  • Abcc6Dyscalc1-C3H/HeJ
Description
SNP rs32756904 contains the T variant in exon 14 creating a novel splice donor site. The resulting transcript has an amino acid substitution at position 619 (p.R619S) and is miss-splicing eliminating 5 bp at the end of the exon 14 coding sequence. This SNP is found in 129S1/SvImJ, C3H/HeJ, DBA/2J, KK/HlJ mice.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations