ZMP

LOC559451

Ensembl ID:

ENSDARG00000059751

Human Orthologue:

ABTB2

Human Description:

ankyrin repeat and BTB (POZ) domain containing 2 [Source:HGNC Symbol;Acc:23842]

Mouse Orthologue:

Abtb2

Mouse Description:

ankyrin repeat and BTB (POZ) domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:2139365]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa13965	Nonsense	Available for shipment	Available now
sa21057	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa13965

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000083389	Nonsense	12	1007	1	17

Genomic Location (Zv9):

Chromosome 7 (position 50729881)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	49000117
GRCz11	7	49272893

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GATTCTACTAATAGACATGGCAGCTGTGAGCAATTCTACTATGAAGACTT[T/A]GGAGGATTTGACTCTAGACTCTGGATATGGAGCCGGCGACTCGTACAGGT

Long Flanking Sequence:

AGTTATATTGTGTTATTTAAAAACTGATATACTCTCTGCTAGACCAGTTTAGACTAACTAGTACATTTCTTTTAACAAACACATTATTAAAAATCAAATAAAATAGTTAATGTGTACATCAGTGCTGTGTTGTGTTTGAAATTCAAAGCAAACTCATTTAAAGCCTCAAACCTTTATCTGTCCTCACTTTCCTGCGCTCTTGCTCTTGCACTGCGCGAGCGCTGAGTGTGTCTGATTGGCTGAGCGAACACTGTCCTCTGATTGGTTCAAAGTTTTTGCTGTTAAAAGTTTCAATGACCAGCTGGGCTTTATACGGCGCTGGGTTGCCATTGCGGACAGACTGTACTCACAAACAAGCGATGGACGTGCGTTGAATTAAAACATTTTTTTTTTTTGCGCTCCATGTTTACTAAAATAATAATATTTGGAAAACGTGAAATAAGTCATTCTGATTCTACTAATAGACATGGCAGCTGTGAGCAATTCTACTATGAAGACTT[T/A]GGAGGATTTGACTCTAGACTCTGGATATGGAGCCGGCGACTCGTACAGGTCCCTCAGCCTGTCCTCCTCCAAATCCAACTCTCAGGCGCTGGTCAGCTCTCCACAGCGGGGCAACTGGTGGAGCTACACGGGCTCCATGAACAGCAGAAACAACAGCTGGGACACGGTCAACACGGTGCTTCCTGAAGACCCTGAGGACATCATCTCCAAATGCCCGAGACTACCAGAATTAGAGGAGTTCCCCTGGACAGACGAGGAGATCGATGTGGTCCTGCGTAAAGTTGCTGGAGAGGGTCTGTGTTTCGCTCCGGAGAGCGTCAGGAGTGTTTCGGTGCTAATGCGCAGAGCTTTACTGCGGATCTCCAGAGAGGCGCAGCGGTTGAGTGTGGTTCATTGCAGGTGCACGCGGTTCGAGGTGCAGAGCGCGATGAAGCTGGTCATGAGCTGGGCTTTGGCGGAAAGCTGCGTCTCGGCCGCGATTAGGGCCATCTCACTGTACA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa21057

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:

A > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000083389	Essential Splice Site	575	1007	8	17
ENSDART00000083389	Essential Splice Site	575	1007	8	17

Genomic Location (Zv9):

Chromosome 7 (position 50766791)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	49037027
GRCz11	7	49309803

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGATGACTGTGGCATGACTTTAGCATGCTAAATAACTTTGTTTGCATTTC[A/C]GCTGCTGTTAGATGTGGGAGCAGATGTGGAGGGCAGAGCCCTGAGAAACA

Long Flanking Sequence:

TTATTTTTTTATTTTTTTATCTTGGTGTGATCAGAGCTTAACTCTTGCATGATATTGGCACATCAGGGGCAAAATAAACACCCATCATCTAAGCCTTGTCCATGATCATTTTAGGCTGAAATTGTTGAATGGATGGCTTGCATTAATGTAACATTCTGAATATTCACACAAACAATATCCAGCAGAGTTTGGGTTGTTTACTAATATTAAATGACATTTTTATTTTGCTGTGTTCTTTTATTCAGGTACCCAACTGCTCACCCAAACACCCGTCTGTTCACCCTGAGAGTCGCAGCTGGGTGGCCCTCACCTTTGCAGTGCTGCATGGACACATATCTGTAGTGCAGGTGAACATGCTGCTCATGCTAATTGCATACAGTAGTATTACTGCGTTTAATCACTTAAGAGGGGTGATTACTGTACTGTACAGCTCTACGGTGTATACAAACTGGATGACTGTGGCATGACTTTAGCATGCTAAATAACTTTGTTTGCATTTC[A/G]GCTGCTGTTAGATGTGGGAGCAGATGTGGAGGGCAGAGCCCTGAGAAACAGCCACCACAGCTCTGCAGAAACACCCCTCCAGCTGGCATCAGCCTCAGGTGGGAAAAAAAAAACTGATTCAAAGTCATCCTTAACATGTGCTTTCTTTTAAATAGTTATGTTTGAATGTACTGTACTGTAACATAGAAAACCATGGCGGAGGCTATTTTCAGCCTTTTGAGAACAATAGTAGATACTGTAGATTTGTAGTAGAAAAATTAATAAATTTGGGATTAGGTTTTAAATGATACTATTCAAAATGACAGTAAAGAGATTTATAATGTTGTAAAAGTTTTTTTTTAAATAAATGCTGTTTTGACTTTACTGTTAAATAAAAATATATCCTGAAAACAAAAATATCTTCTTCTTATTAAAAAAAGAGGAATGATTCATGAGAACCATATAAGCATTATTATCCGAATGTCAAAATTATTCTAAAGAATCATACAACATTCACACCT

Associated Phenotype:

Not determined