ZMP

LOC100330314

Ensembl ID:

ENSDARG00000004322

Human Orthologue:

USH1G

Human Description:

Usher syndrome 1G (autosomal recessive) [Source:HGNC Symbol;Acc:16356]

Mouse Orthologue:

Ush1g

Mouse Description:

Usher syndrome 1G homolog (human) Gene [Source:MGI Symbol;Acc:MGI:2450757]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa18173	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa18173

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:

A > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000023265	Nonsense	60	471	2	3

Genomic Location (Zv9):

Chromosome 3 (position 57598156)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	56821348
GRCz11	3	56888874

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTCTGACATGGACCTGTCATGGATCTATTACTTTCAGGGGGAACCCAGAT[A/T]AGTGTGACATATGGGGAAACACGCCACTTCACCTGGCTGCCTCCAATGGC

Long Flanking Sequence:

ACCTCTTATTCAGACGCCGATCATATTACAGATCCAGTGCCCGGGATCAGCATTAACAGAGATGATCCTGGATTACTGGCTTAAATGAGAAAACAGAGAGTAACATTTGCTTTATGAGATCGTATGGGTGGTTATAGACCACACCTGTTTGCCCTTCTTATGACATTTGAGGATTTTACACACGGCAAGTTTTCATTTCATAGATTCATGCATTATTTACCGGCCTTCGCGGATCACGAGCCTGTGCTGAAAACATAATCAAAAAATCATGGGATTGCCAGCGTGGTCCCAGCTATTTTGGGGATATAATACGAGTGATAATGTCAGCTGAGACGAGCTGTGTCCAGTTTCACCTAGCACATGAACTTGTGAATTGTGTTGCCATGTTATGTATTAAATATAACTTAGATCATATCAGCTCTGAGTAGATGTTTCACTGTTAAATGCCATGTCTGACATGGACCTGTCATGGATCTATTACTTTCAGGGGGAACCCAGAT[A/T]AGTGTGACATATGGGGAAACACGCCACTTCACCTGGCTGCCTCCAATGGCCATCTCAACTGCCTGTCCTTCCTGGTGTCCTTTGGTGCCAACGTGTGGTGCCTGGACAACGACTACCACACGCCTTTGGACATGGCTGCCACCAAGAACCACATGGATTGCGTACGCTATCTGGACTCTATCGCGGCCAAGCAGACAGCCCTCAATCCAAAGCTAGTAAGCAAACTGAAGGACCGGGCCTTCCGGGATGCCGAACGGCGCATCAAGGAATGTGTGAAACTGCAGCAGAGGCACCGGCGGCGCATGGAGCGGAAGTTTCAGCGAGAGGCAACGGAAGCATCAGTTTCTGATGCCATGAGCTTCTCCAGCTACGCCAGCAGCACCTTGAGTCGCAAGTTACACCACTTCAACACTGCCACTAATGTGCCATACTCCCAGGTTAGATTTTGTCCTGTTGTTTGTCCTGTGTTTAGTAACTAGTAGGGATGCACCAAATTTTCT

Associated Phenotype:

Not determined