Busch Lab

ZMP

LOC794258

Ensembl ID:
ENSDARG00000061000
Human Orthologue:
KLHDC8A
Human Description:
kelch domain containing 8A [Source:HGNC Symbol;Acc:25573]
Mouse Orthologue:
Klhdc8a
Mouse Description:
kelch domain containing 8A Gene [Source:MGI Symbol;Acc:MGI:2442630]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa21964 Nonsense Available for shipment Available now
sa14268 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa21964
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
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Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000086516 Nonsense 59 352 1 5
Genomic Location (Zv9):
Chromosome 11 (position 39221445)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 37788464
GRCz11 11 38055669
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGCAGCCCACCAGCGCTCTGGAGCTGTACTCGCCCGAGGTGGACCGCTG[G/A]CTCAGTCTTCCTCCAATGCCCACGCCGAGAGCCGGGGCTGCGGTGGCAGT
Long Flanking Sequence:
CATGGACATATATTTAGCGATTGTGATTTTCGAAAGCCTTAAATCGCTTTGTAAATGTTTATTATTACCATTTTATGAGTCTCCCCATTCAGTTGAATAGAGCGCTTGGAGCCGGAAGCCGCTTCGCATGACGTCACACTTAACACGCGGATAGGTCTTAAATTTAATACTTAATTGTCTTAAAAAGTCTTAAATTTGACATTATGATATCCGCAGAAACTCTGAATATAATAAATGTTTTATTCATCTGAAAGCTTCAATTCCAAATTATTCCCTTTTTTTTACAGGTGCTGATTCCGAAACACCACCCAATCGGTCAGGGCGATGATGGTGCCCTCGGCCCATGAGTTTCATTGGCAGAGCCTGGCGAGTCTTTCCAGTGCACGCGTCTATCACTCGTTGGCTGATGTGGGTGGGCAGCTGTATTTGGTTGGTGGTTGCGATGCTTCGGGGCAGCCCACCAGCGCTCTGGAGCTGTACTCGCCCGAGGTGGACCGCTG[G/A]CTCAGTCTTCCTCCAATGCCCACGCCGAGAGCCGGGGCTGCGGTGGCAGTTTTGGGGAAGCAGCTGCTGGTGGTCGGTGGGATGGGGAAGGAACAGCGCCCTCTGAAGGCCGTGGAGGTTTACAACACAGATGAAGGGAAATGGAGGAAGAGGTGCTCGCTCAGAGAGGCGTCTATGGGGGTTTCTGTCACCGTTAAAGGTAAACGAGTTCAAAATGATGAAGTCAAATATATTCAATTGGAAGTGCATGGTATTTGTCAAAGTATTTGGTCATTGAATAGACTTACAATCATCCCAGATTTCGGGTTTAATTTTCTGATATGCAAATAAACAAATAAACGACATAAAATAAACCCTGCAACTCCAGCCTGGAAGTTTACAATATAGTCATAATCAAAACAACTTTTTAGTTAAGCAATGCTTTAGGGCACAGGTGTCAGCCAATTCCTGGAGGGCCACCTGAAACTACTGATACAGGAAGCCTGTGCTGGTATTTCTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14268
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000086516 Nonsense 166 352 2 5
Genomic Location (Zv9):
Chromosome 11 (position 39216717)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 37783736
GRCz11 11 38050941
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTTCGCAAGGACGTCTGGGCGCTCCTTCCWGCMATGCCCACCCCGCGCTA[C/A]GATACCAGCATCTGCCTAYTGGGCTCCAAGATCTAYGTGGCAGGTTTGCG
Long Flanking Sequence:
AGCTATAATATTATAGATATTATTATTATTATTATTATTATTACTATTATTATTATTATTATTGTTGTTGTTGTTGTTGTTGTTATTATTATCATATTGTTTTTCTTGGAAAGTAATCTATTTTCTTTTGTTCAAATGACATGAACTGATGAATTGTAACTATACGAACCAAGAATGATATTAAACAGTTTCATTTCAGGATGACTTCAAAAAAACAAACAATCATGTCAATGTGACTTTAAATAATGTCTCTTCTGTCAGCACATGGCATTTGAAGCATTTATTCATTGCTTACCAAGTCTTTGACATTGTAAGGTGAGAGATTGTTTTGCTGGAGTTCTTTGTTGAAAATGGAAGACCTTCATTTGACTCTGTTCAGACGGCAGAGCTCTGGCTGTTGGGGGAATGGGACCAGACCTCCTGCCCAGGAGTGTGCTTCAGCAGTACGACCTTCGCAAGGACGTCTGGGCGCTCCTTCCAGCAATGCCCACCCCGCGCTA[C/A]GATACCAGCATCTGCCTACTGGGCTCCAAGATCTACGTGGCAGGTTTGCGATCACCACTTAAATTCCATCTCAAATCTTAATTGAATAATATGTGGACTTACAGGTGTTTAAGACCTCACTGTAGATTTAGGAATCACCCTCCTACCTATAGAACTGCATGATATTGGAAAAAAAATTACATTGTGATATTTTGTTTTTTAACAGTTATTCAACAATATTGCTATATGAATATGTACATATTATATCAATATCGTTATATATTCAACAATATTCTTATATGAATATGTACATATTATATCAATATCGTTATATATTCAACAATATTCTTATATGAATATGTTTATATTAAATCAATATCGTTATATATTCAACAATATTCTTATATGAATGTTTATATTATATCAATACCGTTATATATTCAACAATATTCTTATATGAATATGTTTATATTAAATCAATATCGTTATATATTCAACAATATTCTTATATGAATATGTTT
Associated Phenotype:
Not determined