ZMP

AP3B2

Ensembl ID:

ENSDARG00000063432

Description:

adaptor-related protein complex 3, beta 2 subunit [Source:HGNC Symbol;Acc:567]

Human Orthologue:

AP3B2

Human Description:

adaptor-related protein complex 3, beta 2 subunit [Source:HGNC Symbol;Acc:567]

Mouse Orthologue:

Ap3b2

Mouse Description:

adaptor-related protein complex 3, beta 2 subunit Gene [Source:MGI Symbol;Acc:MGI:1100869]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa10266	Nonsense	Available for shipment	Available now
sa32510	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa10266

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:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000092663	Nonsense	839	1102	21	26

Genomic Location (Zv9):

Chromosome 25 (position 6206706)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	5581283
GRCz11	25	5709204

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GAATATAAACATGTATCATCTRTGTTTCTCAGTTGAACCGGCTCCAGCAT[C/A]GGCTCCGGTGACTCCAGTTAACTTCCTTTCCAGTAGTCTGGTGTCTGATC

Long Flanking Sequence:

AATTATAAAGCTCCCTTGAGGTAGAGTATTATAATGCGATTCACCTTCTGTTTGCGATTTGATTGGACAGGAACCACAGGACTGATTTTTCTAATCCCCAAAGACAAGAAAAAATACAGTAGTGACTGCAGTTTGAAGGAAAGTAGTGGAGTAAAAGTACTGATACTGCACTAAACATGCACACAAGGGAAAGTAAAAGTACACATTTTTAAAACTACTCCGTAAATTAGAATTCCTGAGAAAAACTACTCAATTACAGTAATTTAAGCATTTATAATTAGTTATTTTACACCACTGATTAAATGTTCTTGTTTCCTTCAGGCGCCCGTATCAAAACCACCTCCCAAACCATCCAAAAAAGAGAGCAAGAAGGAGAATAAAGAAATGTCTTTGCTGGATCTGGATGACTGTGAGTAAAACCACTGTACAAGACCTGAGACTCTAATGGCTGAATATAAACATGTATCATCTGTGTTTCTCAGTTGAACCGGCTCCAGCAT[C/A]GGCTCCGGTGACTCCAGTTAACTTCCTTTCCAGTAGTCTGGTGTCTGATCTGGAGGGTTTGTCACTGACCGACACTATTCTGGCCCCTACAGTGAGTCCTGCATGCGCCAAAATACAAATACATCTACATTGAGTCATCCATTCCCCAATAAATAAACACAGGGGGGCTAATAATTCAGGAGGGCTAATAATTCTGACTGTATTATTCATATGAATTTACTATTTTCTTGCAGACTATCGCACCATCCGGTTCAATAAAGATGTATGAGCTCCTGCACCGTATAACGGGCGAGGGTCTGGCGGTGGAGTACTGCTTCAGCAGGCAGCCCTTCAGTCCAGACCCCAACATGGTGGCCGTGCAGATCCAGTTCACCAACAACACCAACGCAGAGACCAAAAACCTGCACATCGAGGAGCCGCGGCTGCAGTCCGGCATGAGGATTCGAGAGTTCTCTGAGATAGGTCTGCAAACCGCCTCAGTATGAGCTCAAACCTCCACA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa32510

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 > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000092663	Essential Splice Site	946	1102	23	26

Genomic Location (Zv9):

Chromosome 25 (position 6209371)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	5578618
GRCz11	25	5706955

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GTAGGCGCTTTTCTGTGACTTTATTTTTGTACCGTCTGCATTGTTCTTTC[A/T]GAGGTGTTAGCGGCGAATGAATCGGTTACCGTGGTGATGGGAATAGATTT

Long Flanking Sequence:

TAGCAACATACTAATTCATGTCAGCAAATTCATGTTAGTTGCTTCCTTTGGCAACATTATTCATGCTAGAAACATGTTAGTGGCATGCTAATTAATGTTAGTTGCATCTGTTAGCAACATTATCAATGCTAGAAACATGCTAGCAACATACTTATTCATGTTAGTTGCATCTGTTAGCAAGATTATCTATGCTATAAACATTCAGCAACATACTAATTTGTGTTAGTTGCTTCTGTTAGCAACATTATCCATGCTAGAAACATGCTAGCAACAAACTAATTCAAGTTAGCTAATTCATCTTAGTTGCATTTGTTAGCAACTTTATCCATGCAAGAGACAGGCTAGCAACATACTGTACTAAATAATGGTAGCGAATCGTGAATTCCTGTTAGCATCGTTACCATCATGTTATTTCAGATTAACAGTAGGTTATCCTTGGGCACTGTCTGTGTAGGCGCTTTTCTGTGACTTTATTTTTGTACCGTCTGCATTGTTCTTTC[A/T]GAGGTGTTAGCGGCGAATGAATCGGTTACCGTGGTGATGGGAATAGATTTCTGTGATTCTACGCAAGCAGCAAACTTCCAGCTGTGGTGAGTGTGTAAAGGCAGCTGAATTACACACTTCTGCTTCCTCACATGCACCTACAGTATGATGATGTGTACCGACAGTGAGAATAACTGAGGTTTCCTGAATGTTCTTCACTTCTAAACAACTAAAGCACATATGATATCTAAAATGTTTTCAGTAAATAGATGTTTTACATTTTTATTTAGATATACATGCTAAATTAATATGCACTAAATAATTGATGGAATACATAATTAAAATATAAAAATAATGAAAAATATTCACCTATTTATTAGCTAAACCTTACTAGTATCATGTTGGACCCCTTTTTGCCTTCAGAACTGCCTTAATCCTTTGTGGCATAGATTCAACAAGGTACTGGAAATATTCCTCAGAGGTTTTGGTCCATACTGACATGATAGCATCACGCAGTTGCT

Associated Phenotype:

Not determined