Abcc6^rs32756904-T

---

Species

Mus musculus

Symbol

Abcc6^rs32756904-T

Category

allele

Allele of gene

Abcc6

Transgenic Constructs

None

Synonyms

• Abcc6^{Dyscalc1-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

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations