Search Zebrafish Mutation Project
e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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SH2D6
- Ensembl ID:
- ENSDARG00000090607
- Description:
- SH2 domain containing 6 [Source:HGNC Symbol;Acc:30439]
- Human Orthologue:
- SH2D6
- Human Description:
- SH2 domain containing 6 [Source:HGNC Symbol;Acc:30439]
- Mouse Orthologue:
- Sh2d6
- Mouse Description:
- SH2 domain containing 6 Gene [Source:MGI Symbol;Acc:MGI:1918380]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa15320 | Essential Splice Site | Available for shipment | Available now |
| sa34277 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa15320
- 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:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000124093 | Essential Splice Site | 8 | 147 | 2 | 6 |
- Genomic Location (Zv9):
- Chromosome 8 (position 2299861)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 8 2067834 GRCz11 8 2126377 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- ATATTTAAAAATCTTACACACTTAAATATATATATACTTGTTCTGTTTCC[A/T]GTCCCCCTACTCCTCCATCTCTGGACAKCACAGGTCAGCACAGGTCTTTT
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa34277
- 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 2018.
- Mutation:
- G > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000124093 | Essential Splice Site | 57 | 147 | 4 | 6 |
- Genomic Location (Zv9):
- Chromosome 8 (position 2299531)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 8 2067504 GRCz11 8 2126047 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GAGATTGTGACCGTAAGACTGCTGAGGAAACTGTGCTCCGGATGAACAAG[G/A]TTTGTGTGCGTTTATGTGTGATTTGTTTTTTTTTTTTGTATTGTCATGCT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Protein quantitative trait loci: A genome-wide association study identifies protein quantitative trait loci (pQTLs). (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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