si:dkey-202m22.4

Ensembl ID:
ENSDARG00000036956
ZFIN ID:
ZDB-GENE-091116-9
Description:
Asxl1 protein [Source:UniProtKB/TrEMBL;Acc:Q6P6X8]
Human Orthologue:
ASXL1
Human Description:
additional sex combs like 1 (Drosophila) [Source:HGNC Symbol;Acc:18318]
Mouse Orthologue:
Asxl1
Mouse Description:
additional sex combs like 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:2684063]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa32451 Nonsense Available for shipment Available now
sa44017 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa32451
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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000042944 Nonsense 934 1632 11 11
ENSDART00000134141 Nonsense 921 1619 12 12

The following transcripts of ENSDARG00000036956 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 30988450)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 30823340
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTTGAGCTTCACCCAGGGACAACTGGAGTTATCCAGCATGGCTCAGACT[T/A]GAAATTACCCAAAGAGACTCTTGTTACAGCCAGAAATGGATGGGTAGAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44017
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 2017.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000042944 Nonsense 1625 1632 11 11
ENSDART00000134141 Nonsense 1612 1619 12 12

The following transcripts of ENSDARG00000036956 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 30990524)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 30825414
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGCTGTGGCGCTTTCTGCCATGATGATTGCATCGGCCCTTCGAAACTGTG[T/A]GTGTCATGTCTGGTTGTCAGATAGTTTGTTGCAGCTCCTTTAAAACTGAG
Associated Phenotype:
Not determined

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