LOC100331105

Ensembl ID:
ENSDARG00000086172
Human Orthologue:
ACVR1C
Human Description:
activin A receptor, type IC [Source:HGNC Symbol;Acc:18123]
Mouse Orthologue:
Acvr1c
Mouse Description:
activin A receptor, type IC Gene [Source:MGI Symbol;Acc:MGI:2661081]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa41346 Nonsense Mutation detected in F1 DNA During 2016
sa25414 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa41346
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129308 Nonsense 44 369 2 6
Genomic Location:
Chromosome 9 (position 5314191)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCACTTGTGTGTCAACCACACGTGTGAGACGGAGGCAGAAGGCGCTTGTT[G/A]GAACTCAGTGATGCTCATAAACGGGAAGGAGGAGACGGTGAAATCCTGCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25414
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:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129308 Nonsense 83 369 2 6
Genomic Location:
Chromosome 9 (position 5314073)
KASP Assay ID:
554-7455.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGGGTCAGGTGTTCTGCTACAGCTCCAGAAATGTCTCCAAGCGCAACTG[C/A]TGCTTCACAGACTTCTGCAACAATGAAACACTGCACCTCAATCCAGGTAA
Associated Phenotype:
Not determined

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