col1a1b

Ensembl ID:
ENSDARG00000035809
ZFIN ID:
ZDB-GENE-030131-4400
Description:
collagen, type I, alpha 1b [Source:RefSeq peptide;Acc:NP_958886]
Human Orthologue:
COL1A1
Human Description:
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Mouse Orthologue:
Col1a1
Mouse Description:
collagen, type I, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88467]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa12931 Nonsense Available for shipment Available now
sa41934 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa12931
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000015092 Nonsense 68 1449 2 51
Genomic Location (Zv9):
Chromosome 12 (position 3723840)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 3097360
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAAATCTGCGTCTGCGACAGCGGGACGGTCATGTGCGACGAGGTGATCTG[C/A]GAGGATACAKCAGAYTGTGCCAATCCAGAGATTCCMGATGGAGAATGCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41934
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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000015092 Nonsense 578 1449 26 51
Genomic Location (Zv9):
Chromosome 12 (position 3712627)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 3086147
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTTGTACCAACTGCTTGATATTCACATATATTTGTTATTCCTTTTAGGGT[G/T]AGAGTGGTAAACCTGGTGAGAGAGGACTTGCTGGACCTACTGGCCCTCTG
Associated Phenotype:
Not determined

GWAS

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

  • Prostate cancer: A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. (View Study)

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

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