tnni2b.2

Ensembl ID:
ENSDARG00000029995
ZFIN ID:
ZDB-GENE-040801-9
Description:
troponin I, skeletal, fast 2b.2 [Source:RefSeq peptide;Acc:NP_001003423]
Human Orthologue:
TNNI2
Human Description:
troponin I type 2 (skeletal, fast) [Source:HGNC Symbol;Acc:11946]
Mouse Orthologue:
Tnni2
Mouse Description:
troponin I, skeletal, fast 2 Gene [Source:MGI Symbol;Acc:MGI:105070]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa17285 Essential Splice Site Available for shipment Available now
sa5435 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa17285
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000099001 Essential Splice Site 27 187 3 6
ENSDART00000139240 Essential Splice Site 16 176 5 8
ENSDART00000146702 Essential Splice Site 16 176 4 7
Genomic Location:
Chromosome 7 (position 40784647)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGGCTGGCCAGTGTTAAATATCCAAGTGGCATTTGTTCATTGTTTGTTGT[A/C]GAGTTTGATTCTGGGTATAGCCAAAGACCTGCTGTCGGCTGAGCAGAAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5435
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 2014.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000099001 Nonsense 98 187 4 6
ENSDART00000139240 Nonsense 87 176 6 8
ENSDART00000146702 Nonsense 87 176 5 7
Genomic Location:
Chromosome 7 (position 40784949)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGGTGGATGAGGAAAGATACGACATGTCTCTCAAAGTGGCCAAGAGTGAC[A/T]AAGAGGTTTTTGTTTTTCTCATTCCTCCGTCCTTATCCATCTCACTCCTC
Associated Phenotype:
Not determined

GWAS

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

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

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/oihsicby