ZMP

si:ch211-193k19.1

Ensembl ID:

ENSDARG00000035660

ZFIN ID:

ZDB-GENE-060503-110

Description:

Novel protein [Source:UniProtKB/TrEMBL;Acc:Q1L9B7]

Human Orthologue:

KIAA0319L

Human Description:

KIAA0319-like [Source:HGNC Symbol;Acc:30071]

Mouse Orthologue:

AU040320

Mouse Description:

expressed sequence AU040320 Gene [Source:MGI Symbol;Acc:MGI:2140475]

Alleles

There are 6 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa13528	Nonsense	Available for shipment	Available now
sa9917	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa13528

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000051723	Nonsense	68	951	2	20
ENSDART00000139151	None	None	764	None	17

Genomic Location (Zv9):

Chromosome 19 (position 44902350)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	44085705
GRCz11	19	43681302

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CAGCGTCATCGGTCTGGGCTGGCAGCCGCTGGCGGTGGACCAGGGAGGGT[C/A]ACGCTGCYGGGAGWCCTGCTGTTTGGAGCCGTCCTGCGGGGCCGTGTGGA

Long Flanking Sequence:

ATATTTGTTTTGTATAAGTTTTTTGGTAAATTAATACCCTATAGCAGGGGTCACCAATCTCGTTCCTGGAGGTCCGGTGCCCTGCAGGGTTTAGCTCCAACTTTCCTCAACACACCTGCCTGGGTGTTTCAAATATACCTAGTAAGATCTTGATTAGCATCTTCAGTTGTGTTTGATTAGGGTTGGAGCTAAAATCTGCAGGACATCGGACCTCTAGAAACAAGTTTGGTGGTCCCTGCTCTATAGTATAGGTTTTTATCATCAGCCATTTATAAGTTAACAGCCACAATAACAACATAAATGATCACATCACTGCTATCTTCCTAACATCGCAGTGAATGTGGTCTTTTCTCTGTGCTCCACATTTTTAAGCTGAGTTTTCTGTGCTGTGTCAGGGGTCTCTGGCAGCATCTGCTCAGTGACCGGCGGTGTTTTGGGGATCCACTGGAGCAGCGTCATCGGTCTGGGCTGGCAGCCGCTGGCGGTGGACCAGGGAGGGT[C/A]ACGCTGCTGGGAGTCCTGCTGTTTGGAGCCGTCCTGCGGGGCCGTGTGGAGCCTCGGCGGACGCTGTGTGCTGTTGGCCTGCTCTCAGAGGGAAACCTGCGGCATCTCGTCTCTTCCGCAGCCACATGTAGAGTCTCTAGGGCTCCTGCAGCTCCTCAACAAGAGCAAGAGGAGGAAAACCCGCAGCGCTCAGGACATCAGAGCAATCAGGGACACGGAGCAGGTCAGGCTGTCATATGACTTGCTCTTCAACTCATTGGAATAGTTGAAAACTGCTTTAGTCACAGTTTAAATGTGATCTGCCAAATTTGCACATAAGCTGCATTTGCTTGTAAACTAAAGCGGCTGTCCTCAGAGCATAGCTGTTTCTGCTTAATTAGAGCTGTGATGAAAAATCAATTGAGAAATTGATTGTGCATCTATTTTGAGGTTTCAGAATGCATCGCTGTTCCCTCTTGAATCAATTGTGGGCTTAGTTTTTTAACAGCAGAATGTGCTCT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa9917

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000051723	Essential Splice Site	271	951	5	20
ENSDART00000139151	Essential Splice Site	66	764	2	17

Genomic Location (Zv9):

Chromosome 19 (position 44896670)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	44091385
GRCz11	19	43686982

KASP Assay ID:

2261-3683.1 (used for ordering genotyping assays)

KASP Sequence:

CAGTGGAGAAATGGAGGRTAAACAYASCATGACACYTAAGCTGAGTAAGG[T/C]AAATAGAATATGAAGAGTTTAGATRCAAAAACCCATAAATGCCATCTGAA

Long Flanking Sequence:

AAAACTTTTCTAAAAACTTTTGTTTCATGTAACAGTGCGAGAGCTGGTCGTCTCTGCTGGCCAAAATGTGGAGGTCACTCTACCACGCAATGAAGTGAAGCTCAGTGCTTATGTAGTGCCAGCGCCACCTACAGGTACTGCTCTAAATAAACGTTTTTGTAAATAAACGTCTCCTTTGACCACTTACCTGATTACTTTAAGAGGAGAGTTTGTGAGAGGTGTATGGATGACCATTTTCTGACCCTCTGTCTTTACTGACAAATTGTGCATGAAAATCACCTTTGTTTAATGGCCCAGCTTTAGATTAGCTTTTTTAAGCTGCCTCTGAAAGTGGTCAAAAGGGGTGCACTTGTCTTCAGATTAGCAAAAACAGGGCCTTTATTTATGTGTTATTTCTTCAGGGACCAACTATGACTTTGACTGGCGTTTGATAACACATCCAAAAGATTACAGTGGAGAAATGGAGGGTAAACACACCATGACACTTAAGCTGAGTAAGG[T/C]AAATAGAATATGAAGAGTTTAGATGCAAAAACCCATAAATGCCATCTGAAATTTCCATCGAAACTGAACATTTTTACTATAGAATGATATAATATTATAAGTAAAAGTAAATATAAACTATAGAATTATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATGTATGTATGTATGTATGTATGTATGTGTATATATATATATATATACATATATATATATATAAAAAAAAAATATATATATATATATATATACATATACATATAATTATATATACATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACATGCATACATACATACATACATAC

Associated Phenotype:

Not determined