ZMP

ush1c

Ensembl ID:

ENSDARG00000051876

ZFIN ID:

ZDB-GENE-060312-41

Description:

harmonin [Source:RefSeq peptide;Acc:NP_001035018]

Human Orthologue:

USH1C

Human Description:

Usher syndrome 1C (autosomal recessive, severe) [Source:HGNC Symbol;Acc:12597]

Mouse Orthologue:

Ush1c

Mouse Description:

Usher syndrome 1C homolog (human) Gene [Source:MGI Symbol;Acc:MGI:1919338]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa9749	Essential Splice Site	Available for shipment	Available now
sa24680	Essential Splice Site, Missense	Available for shipment	Available now

Mutation Details

Allele Name:

sa9749

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
ENSDART00000073584	None	None	548	None	21
ENSDART00000121791	None	None	548	None	21
ENSDART00000129484	Essential Splice Site	510	895	19	29
ENSDART00000131991	Essential Splice Site	524	674	17	18
ENSDART00000131993	None	None	134	None	6

Genomic Location (Zv9):

Chromosome 25 (position 23406443)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	22585556
GRCz11	25	22683104

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTCAAACAAGACTAGAGCAAATCTCCTCGGTRGAAAACGAGTCTCCAGAG[G/A]TAAAGTCTACCACTCAACATCCCAATGTGTTGGTCTTGTTACTCACAGGT

Long Flanking Sequence:

GGGCGGTGTTTACATTATTCCGATGGGAAAAAAAATCTGTGTCGCACCAATTGCTGTTTGACTCACAGGTTGTAATTTGAGTTTTTCTCAAGGAGTACCACATAGATGTGGCTTTTACTGATTGCAGTGATTAATAAGGAGGAAAGAGAATGAGACCACTCACAGTACATGGCTGAAAGCACAAGCACACTTCTTTATGTTACAAACTAAGCTCAGAATCGATTCCTGAAAGAATCGCAATGCAATCCAAAAGTCTAAGGGTGGATCCATGAATCACAATACATCGATTCATTGTCCCAATTCTAATTTCCAATGCCAGTCCAGCAAGTTCTCAATGGTATCAAAGGTTCCATGCTGTGGCTGTGGCTTTACTTATCATCTAGGTGTCAGAAACTGAGAGGGAAGATTTGGAAGAATCTGAGAAAGTGCAACACTGGGTGGAGAGGCTCTGTCAAACAAGACTAGAGCAAATCTCCTCGGTAGAAAACGAGTCTCCAGAG[G/A]TAAAGTCTACCACTCAACATCCCAATGTGTTGGTCTTGTTACTCACAGGTTGATAGATCAGATTTCTAAGTATTTAAAGTATACCCTCAGATGTCTCCAACACGCTCCCCGGCGTCGACTGGTCCCACCAGGCGGAGGTTCCCTGGTGGCTTGACGTTGGCCACTACTGATCTTGATGACATCAACTTAGATGATGTGGATCAGAGTCTAAGGCAGCCTTTAAAAAGATTAGCCCCAACTCCACCTACATCCAATCAACCTCCACCTCCCTTACCTCTCCCTCCACCCTCACCCCGACTTTACCATTCAAACACCCATCGACCCCAATCTCCAAGATCACAGCACCCAATGCAGTCCAGGCCAGCACCTCAACGTCCACCTTCCCCACCAGCTTCAAGGGTGCCCCCTTCCTCAATCGGTCGTAGCCGGCCACCCCCTTCTGCCCCACTATTCTCCTCCAGGGGTCTATCCTCATTTCAGCCACCGCCCCCTCCCCCACC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa24680

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:

T > A

Consequence:

Essential Splice Site, Missense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000073584	None	None	548	None	21
ENSDART00000121791	None	None	548	None	21
ENSDART00000129484	Missense	726	895	23	29
ENSDART00000131991	None	None	674	None	18
ENSDART00000131993	Essential Splice Site	13	134	None	6

Genomic Location (Zv9):

Chromosome 25 (position 23411277)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	22590390
GRCz11	25	22687938

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GTATGTTTCAGCCCCCGGAGATGCTAAAGCGGATGGTCACATACAACACG[T/A]CCTTTAAATCCAGCAAGAAACAAGTAACTGTCATCATTGCTTTTCATTAC

Long Flanking Sequence:

CAGTGCTGTTAAGCAGTCAGTGTATTTGTAAAGCTCACAGATGGCTGAATTTATAGATAATAGCTAATAGGCCTATTTGCTATGGGGAGATAAACCTTAAATGGCATGCAATGAGATGCAACAACTGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCCTTGTATACCAATAATAGTACATTTTGACTTTGGGGGTACATGTTTGTGGTCCCAAGAAGGCAAAAAGGCTAATAAATCCCACAGAAGGAAGTGGTTTGTGTAAGATGTAAAAATGCAGATTGTTTCTTTTCTTGTGAGTGCTTTGGTTTAGGTGTAAGTTTGTGAGGATAGAATATACAGTCTATAAAAAGCATTATGTCTATGGAAAGTCCTCGTAAAGATAGCTGTACGACTGTGTGCGTGTGTCATTGTGTGGAGTTTTTAAGAGTCATTCACAATTGTGTATGTTTCAGCCCCCGGAGATGCTAAAGCGGATGGTCACATACAACACG[T/A]CCTTTAAATCCAGCAAGAAACAAGTAACTGTCATCATTGCTTTTCATTACTCCCCCTCCTCTCTCTAAACACTCTGGTCCTCGAGTGAAACTTCTGCTGTCTGAGAGTTTGCATCTGCATGTGAATTGCATACTACATTTCTAACAATATTCCATAGACATCTGTCTGTGTTGATAGAAATCTCTATGTACTGATTTTAAACTGGTTTGTTATTTTAAAAGGGTAAGGAATGTAAAAACTCAAAACCTGTGTGCGTTTGCAGTGCTATTGTTTATTTATAAGCAAAGTAGGCATTTAAATATAAGTGTGAATTAGAAGTCGCTGAGACTTACGTTTCAGTATGTTGATGTACTTCCAACTCAAACAGAATACTGATTAGGGGGCAGGGCTTTCTTTGTGCGCATCATTCTCTTATAGCAAACGAACGGTAAGAGGGACATGATTAAGAATCCTCTCAAAGAACGAAGAACTGCCTCTCCAAACATAGATGTAAATAGTCA

Associated Phenotype:

Not determined