ZMP

APBB3

Ensembl ID:

ENSDARG00000053771

Description:

amyloid beta (A4) precursor protein-binding, family B, member 3 [Source:HGNC Symbol;Acc:20708]

Human Orthologue:

APBB3

Human Description:

amyloid beta (A4) precursor protein-binding, family B, member 3 [Source:HGNC Symbol;Acc:20708]

Mouse Orthologue:

Apbb3

Mouse Description:

amyloid beta (A4) precursor protein-binding, family B, member 3 Gene [Source:MGI Symbol;Acc:MGI:1084

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa18391	Nonsense	Available for shipment	Available now
sa18589	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa18391

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000075808	Nonsense	72	480	2	12

Genomic Location (Zv9):

Chromosome 21 (position 39413705)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	40742167
GRCz11	21	40765214

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGTGGCAGCATCCCTCCTACAGCGCAGAGGAGGAGCAGAACGCCATTAAC[G/T]GAGTCACTGCCAGCCAGATCMAGGTGAGATGCTCTCNNNTCTCTNNNNGT

Long Flanking Sequence:

ATCCTACAGAATGAGTTTAATCAGAGAGTAAAGCTGCACACAGTCTCTTGTGATGGTTAGGTTTAGGGGTGCGGTGGGGTGGGGTGAGGGCAATATAATATACGGTTTGGGCTGCATAAAATGAATGGAAACCTATGTAATGTCCCCACTTTTCACAAAAACAAACGTGTGTGTGTGTGTGTGTGTTTAAGGGCTGCTGGCTCTGTGTTAATGGGTGGAAAATGTAAAATGGCACGTTTACAACAATCCATGTGTGCTGTCCTCGACTTAACATGCATATGAAAGGTTAATAACTCATCAGATCTTGATTAATCCCGTATCTCTGTCTCTGTGTAGATAACATCTGGAATGATCAGAGTCTGGAGCTGGACTCGGATCTGCCTCCAGGATGGCGCACTATACGCGACAGCACAGGCACCTATTACTGGCACGTGCCCACGGGCACCACACAGTGGCAGCATCCCTCCTACAGCGCAGAGGAGGAGCAGAACGCCATTAAC[G/T]GAGTCACTGCCAGCCAGATCAAGGTGAGATGCTCTCATCTCTCTCTCTGTGTATACTTGTTAATATGGTTTACGAGCAATTTGTTCAAATTTGCATAATGATAACATGGGTATGATGTTGGAATGACAATATTAAAGTCAGCGTGAATCAGATGTTGCTGAGACTTTTATTTTAGTATGTTGATGTACTTCCTGCTGAAATGGAATATTGAGTAGGGGCAAGGGCAGATTTAGCGATATTGGGGACCTAAACACTTCCATGCAGGAGGCCCAAAAGATCTTAAATGCACCTTTTGTAGTTTATTATTTTTATTAATTATTTATTAATTATTTTATTAATATTATTATAATTATTTTTTCTTATATCATTAAATCAAATTTTCTACATTTTATCTAAATGCAAAATAATAATAACTTGTGAAGTGCCTTGTAAAACTTTTGAAACGGTTCGCTTTTTAAAAAAATGATATCTCAACTAAACACAGTTGAGGTCAGAACTAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa18589

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000075808	Essential Splice Site	406	480	11	12

Genomic Location (Zv9):

Chromosome 21 (position 39379948)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	40708410
GRCz11	21	40731457

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTGAGCCCGATGCCGGGATCATCTCYGAGGCAGTCCARGCTGCATGCATG[G/A]TGAGCTGATACTACATTTATTTGAYTTYCACAYTAYAGAACTGGTAAAAG

Long Flanking Sequence:

CAGCAACCCAGCGACCTTCTTGCTGTGAGGCGACAGCACTACCTACTGCGCCACTGCGTCGCCACACATAGATTTGGTCCTTTAAAAAAAATAAGAGTCAAGAATATATTATTAACACTATTTTAGATAATTCATGATCTAATTCCATTCAAAATGAAATTTAAGTCCACTGCATGAACACAATTTAGTAAAGCATAACGAAAAGATGCATATTACTATGACTAGCAAACAAACTGTGCAGAAACAGTATGACTAGTTTTCATTTCTGAATATAATCATGTCTGTTTTCCACTTCTTCTTTCCCTCTTGCTTTGTTTCAGGATGGAGACGACCCATTCTGGGAATCTCAAGTACGCTACTTGACTTTCCTAGGTGTGGGTCATGACACGCACACTTTTGCAGTCATAGTAGATGCTGGAACCCAGCGCTTTGAATGCCATGTGTTTTGGTGTGAGCCCGATGCCGGGATCATCTCTGAGGCAGTCCAGGCTGCATGCATG[G/A]TGAGCTGATACTACATTTATTTGACTTCCACACTACAGAACTGGTAAAAGGTTACAGTTTCATGATACTGTGGGATTCCGTGGTATATCTTTCTGTTGTAAATGTCTGTCGCCCTCTTCAGGTTCAGTACCAGAAATGTTTGGTGGCACAGACTCCTCCTGTGAGGCCCAAGATATGGAGGGCAGGCTCCAAAGTCAAACGAGCCAACTCCATGGATGGCTCCAGTTTCCCACCACGATATCAAGGACACACAGCCTCCAAAATGACCTCTCCCAGTGTGAAGAAGGGCATGCTGGCATTTTTTGAGACATTTCGGAATAAACACTCTGCGGTATCCACTCCCTAACAACAGCGTCTGTGTGCACTGTGATGGGGAGGAGATGTAGAGACGGAAGAAATGAACATGAAGGTTAAGAAGGCTTAAAAATAAGAGTATCCTTTGCCTTTGGCATTTTTTAATCCAACTTAATTTCCCCAGTATGACCTCACTAAAAACCCAC

Associated Phenotype:

Not determined