Allele/Variant

Nckap1lm1Btlr

Species
Mus musculus
Symbol
Nckap1lm1Btlr
Category
allele
Allele of gene
Nckap1l
Transgenic Constructs
None
Synonyms
  • hem-haw
Description
C to A transversion at base pair 103,471,232 (v38) on chromosome 15, or base pair 17,450 in the GenBank genomic region NC_000081 encoding Nckap1l. The mutation corresponds to residue 1,000 in the mRNA sequence NM_153505.4 (c.1000C>A) within exon 10 of 31 total exons. The mutation results in substitution of tyrosine 315 for a premature stop codon (p.Y315*) in the HEM1 protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations