LOC100333692

Ensembl ID:
ENSDARG00000011407
Human Orthologue:
COL2A1
Human Description:
collagen, type II, alpha 1 [Source:HGNC Symbol;Acc:2200]
Mouse Orthologue:
Col2a1
Mouse Description:
collagen, type II, alpha 1 Gene [Source:MGI Symbol;Acc:MGI:88452]

Alleles

There are 6 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa9187 Essential Splice Site Mutation detected in F1 DNA During 2016
sa34995 Essential Splice Site Mutation detected in F1 DNA During 2016
sa13949 Essential Splice Site Available for shipment Available now
sa9455 Nonsense Available for shipment Available now
sa16061 Essential Splice Site Available for shipment Available now
sa31809 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa9187
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
ENSDART00000047844 Essential Splice Site 158 1257 11 47
Genomic Location (Zv9):
Chromosome 11 (position 114051)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 46546
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCGTTGGTACAGCAGGATCTCCCGGGTTCCCAGGATCCCCCGGTGCAAAG[G/A]TGTGACCTCTCTTGATTCCTCTATCAATGATCCCTCATGTCTCTGCTGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34995
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047844 Essential Splice Site 158 1257 11 47
Genomic Location (Zv9):
Chromosome 11 (position 114050)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 46545
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGTTGGTACAGCAGGATCTCCCGGGTTCCCAGGATCCCCCGGTGCAAAGG[T/C]GTGACCTCTCTTGATTCCTCTATCAATGATCCCTCATGTCTCTGCTGCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13949
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047844 Essential Splice Site 411 1257 21 47
Genomic Location (Zv9):
Chromosome 11 (position 109945)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 42440
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGCTKGAAAGGCTGGAGAGAAGGGACTCGCTGGAGCTCCGGGTCTGCGTG[T/A]AAGTGTTGATTTGCAGCTTCATAAACTCMGAGAAACGAGCGGACACACAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9455
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047844 Nonsense 674 1257 34 47
Genomic Location (Zv9):
Chromosome 11 (position 106131)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 38626
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CATTTTTAAAATGTTTGCAGGGTGCCACGGGTTTCCCCGGAGCCGCTRGA[A/T]GAGTTGGACCTCCTGGTCCTAATGTAAGAAAAGCAATAGAAAGCAAAACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16061
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047844 Essential Splice Site 861 1257 39 47
Genomic Location (Zv9):
Chromosome 11 (position 104207)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 36702
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTCCTGGTCCAGTMGGACCCACTGGTAAWCAGGGAGACAGAGGRGAGGCR[G/A]TAAGTACAGATTTTTACAGCTCTTCATGACGTGTAGAATAAAATGTATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31809
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047844 Essential Splice Site 915 1257 41 47
Genomic Location (Zv9):
Chromosome 11 (position 103582)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 36077
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGAAAGGACACAGAGGCTTCACTGGTCTCCAAGGTCTGCCTGGGTCTCCT[G/T]TAAGTGCCTACATCGCTCATATTTGCACTCATTTTGTGTAAATGACGTAC
Associated Phenotype:
Not determined

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