ZMP

KBTBD13 (1 of 3)

Ensembl ID:

ENSDARG00000076449

Description:

kelch repeat and BTB (POZ) domain containing 13 [Source:HGNC Symbol;Acc:37227]

Human Orthologue:

KBTBD13

Human Description:

kelch repeat and BTB (POZ) domain containing 13 [Source:HGNC Symbol;Acc:37227]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa40845	Nonsense	Mutation detected in F1 DNA	Not yet available
sa20871	Nonsense	Available for shipment	Available now
sa14364	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa40845

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000110452	Nonsense	173	410	2	2

Genomic Location (Zv9):

Chromosome 7 (position 14615669)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	13496682
GRCz11	7	13749492

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TACACATTTGCCTCTCAACGCCAGCACAACCATGGCAGGAGTTACGGCTT[T/A]AGACAATAAGATCTACATTGTCGGAGGAGTTTATGATATGACTAATAAAG

Long Flanking Sequence:

GGAATGCCATCAGGATGAGATAAGTCTTCAGAAGCCGAGCGTTCGAGGATTTTATATCGCTCTCCGTGTGATAAATGGCGAAAGTCCAATGCTGAACGATCACGAAATCGTTGACGCCATCGAATGTGCTGCCTTCCTTCAGATTGAGATTTTAACTGAGCATCTTATAAATATTATAAACTCAGACAACTGCCTTCTTATGTACCACACGGCTTCGACTTTCGGTTTGCGTGAGCTCTTCAAAAGCGCGTCATTGTTCATTCGAGACATGTATTCGGATCTAAAAGAACATGCAAAGTGCTTGCCTGAGGATTTGATTGACTATGTTGAGACTTTAGTTCCCAGTACGTACGTCATGGTTGGCACTCATTCGCCAGGTATCAAGCTTTTGCAGGACTTCATGAGGACTGTTTGTTATCTTGATGAGGATGAGAAAGACTGGAAGGTTCTTACACATTTGCCTCTCAACGCCAGCACAACCATGGCAGGAGTTACGGCTT[T/A]AGACAATAAGATCTACATTGTCGGAGGAGTTTATGATATGACTAATAAAGTGGTGGATTCGGGATTCTGCTATGATGTGTTGACGGACACTTGGAGCACATTTTCAAATCCCCAGCAGCTTCGCTTTAACTGTACGTTAGTCGGACATGATGGCGATTTGTACGTAATTGGCGGAGAATATGAAAAAAGCGTAATGTCTTCTGTGGAAAAGTATCGAGTCTCATCGGATACTTGGAGCTTTGTTGCGCATCTACCAAGAGCTGCATCTGCTGTCGCTTGCACCAAAGCAATGAGAAGATTGTTCATCTGTCTTTGGAGGCCTAAAGACGCTACCGAGATTTATGAATATGTGGCAAAGAAAGACGAATGGAGGTTAATCACGACACTTGTTCGGCATCAAAGTTACGGACATTGCATGGTGGCTCACAGAGATAATTTGTACGTGATGAGGAACGGGCCGTCGGATGATTTTTTGAGGTGCATGATGGATTGTTATAATC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa20871

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:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000110452	Nonsense	181	410	2	2

Genomic Location (Zv9):

Chromosome 7 (position 14615646)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	13496659
GRCz11	7	13749469

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCACAACCATGGCAGGAGTTACGGCTTTAGACAATAAGATCTACATTGTC[G/T]GAGGAGTTTATGATATGACTAATAAAGTGGTGGATTCGGGATTCTGCTAT

Long Flanking Sequence:

GTCTTCAGAAGCCGAGCGTTCGAGGATTTTATATCGCTCTCCGTGTGATAAATGGCGAAAGTCCAATGCTGAACGATCACGAAATCGTTGACGCCATCGAATGTGCTGCCTTCCTTCAGATTGAGATTTTAACTGAGCATCTTATAAATATTATAAACTCAGACAACTGCCTTCTTATGTACCACACGGCTTCGACTTTCGGTTTGCGTGAGCTCTTCAAAAGCGCGTCATTGTTCATTCGAGACATGTATTCGGATCTAAAAGAACATGCAAAGTGCTTGCCTGAGGATTTGATTGACTATGTTGAGACTTTAGTTCCCAGTACGTACGTCATGGTTGGCACTCATTCGCCAGGTATCAAGCTTTTGCAGGACTTCATGAGGACTGTTTGTTATCTTGATGAGGATGAGAAAGACTGGAAGGTTCTTACACATTTGCCTCTCAACGCCAGCACAACCATGGCAGGAGTTACGGCTTTAGACAATAAGATCTACATTGTC[G/T]GAGGAGTTTATGATATGACTAATAAAGTGGTGGATTCGGGATTCTGCTATGATGTGTTGACGGACACTTGGAGCACATTTTCAAATCCCCAGCAGCTTCGCTTTAACTGTACGTTAGTCGGACATGATGGCGATTTGTACGTAATTGGCGGAGAATATGAAAAAAGCGTAATGTCTTCTGTGGAAAAGTATCGAGTCTCATCGGATACTTGGAGCTTTGTTGCGCATCTACCAAGAGCTGCATCTGCTGTCGCTTGCACCAAAGCAATGAGAAGATTGTTCATCTGTCTTTGGAGGCCTAAAGACGCTACCGAGATTTATGAATATGTGGCAAAGAAAGACGAATGGAGGTTAATCACGACACTTGTTCGGCATCAAAGTTACGGACATTGCATGGTGGCTCACAGAGATAATTTGTACGTGATGAGGAACGGGCCGTCGGATGATTTTTTGAGGTGCATGATGGATTGTTATAATCTGACTTCAGGTCAGTGGACGGCT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa14364

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000110452	Nonsense	244	410	2	2

Genomic Location (Zv9):

Chromosome 7 (position 14615455)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	13496468
GRCz11	7	13749278

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GYAATTGGCGGAGAATATGAAAAAAGCGTMATGTCTTCWGTGGAAAAGTA[T/A]CRAGTCTCATCGGATACYTGGAGCTTTGTTGCGCATCTACCAAGAGCTGC

Long Flanking Sequence:

TCGACTTTCGGTTTGCGTGAGCTCTTCAAAAGCGCGTCATTGTTCATTCGAGACATGTATTCGGATCTAAAAGAACATGCAAAGTGCTTGCCTGAGGATTTGATTGACTATGTTGAGACTTTAGTTCCCAGTACGTACGTCATGGTTGGCACTCATTCGCCAGGTATCAAGCTTTTGCAGGACTTCATGAGGACTGTTTGTTATCTTGATGAGGATGAGAAAGACTGGAAGGTTCTTACACATTTGCCTCTCAACGCCAGCACAACCATGGCAGGAGTTACGGCTTTAGACAATAAGATCTACATTGTCGGAGGAGTTTATGATATGACTAATAAAGTGGTGGATTCGGGATTCTGCTATGATGTGTTGACGGACACTTGGAGCACATTTTCAAATCCCCAGCAGCTTCGCTTTAACTGTACGTTAGTCGGACATGATGGCGATTTGTACGTAATTGGCGGAGAATATGAAAAAAGCGTAATGTCTTCTGTGGAAAAGTA[T/A]CGAGTCTCATCGGATACTTGGAGCTTTGTTGCGCATCTACCAAGAGCTGCATCTGCTGTCGCTTGCACCAAAGCAATGAGAAGATTGTTCATCTGTCTTTGGAGGCCTAAAGACGCTACCGAGATTTATGAATATGTGGCAAAGAAAGACGAATGGAGGTTAATCACGACACTTGTTCGGCATCAAAGTTACGGACATTGCATGGTGGCTCACAGAGATAATTTGTACGTGATGAGGAACGGGCCGTCGGATGATTTTTTGAGGTGCATGATGGATTGTTATAATCTGACTTCAGGTCAGTGGACGGCTTTGGCCGGGCAGTATGAAAACAGTAAAGGAGCTTTGTTTACCGCGGTAGTCAGAGGAGACTCTGCGTTCACTGTGAACCGCAGGGCGACTGTGGAATACGCTATCGAGGACGATAAGTGGAGGACCAAAAAAGAAATGACAGGGTTTCCGCGAATCGGCTCCAAGTGGACTTTCCTCTTGAGACTGCCAAA

Associated Phenotype:

Not determined