ccnd1

Ensembl ID:
ENSDARG00000035750
ZFIN ID:
ZDB-GENE-980526-176
Description:
G1/S-specific cyclin-D1 [Source:UniProtKB/Swiss-Prot;Acc:Q90459]
Human Orthologue:
CCND1
Human Description:
cyclin D1 [Source:HGNC Symbol;Acc:1582]
Mouse Orthologue:
Ccnd1
Mouse Description:
cyclin D1 Gene [Source:MGI Symbol;Acc:MGI:88313]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa21083 Nonsense Mutation detected in F1 DNA During 2016
sa34190 Essential Splice Site Mutation detected in F1 DNA During 2016
sa14707 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa21083
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000051868 Nonsense 38 291 1 5
Genomic Location (Zv9):
Chromosome 7 (position 54577704)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 54407378
KASP Assay ID:
2259-9523.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGTTGAATGACCGAGTTTTACAGACAATGCTTAAAGCTGAGGAAAACTA[T/A]CTCCCATCACCAAATTATTTCAAGTGTGTTCAGAAAGAAATTGTGCCTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34190
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000051868 Essential Splice Site 67 291 2 5
Genomic Location (Zv9):
Chromosome 7 (position 54579185)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 54405897
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCTGTTGTGACTTAATATTTATTTATCGTATGCACTTTCTTTTCTTTAAA[G/A]GTCTGTGAAGAGCAGAAATGTGAAGAGGAAGTTTTTCCTTTGGCTATGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14707
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000051868 Essential Splice Site 138 291 2 5
Genomic Location (Zv9):
Chromosome 7 (position 54579403)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 54405679
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAAGTTGTGCATATACACGGACAACTCTGTCCGTCCCGGCGAATTATTGG[T/A]AAATRYTTAATACTCTTTAATTTAGCAGCTTGATATTKTTTTCTTTTTTT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Breast cancer: Genome-wide association study identifies five new breast cancer susceptibility loci. (View Study)
  • Breast size: Genetic variants associated with breast size also influence breast cancer risk. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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