ZMP

LOC100331800

Ensembl ID:

ENSDARG00000013134

Human Orthologue:

PRPH2

Human Description:

peripherin 2 (retinal degeneration, slow) [Source:HGNC Symbol;Acc:9942]

Mouse Orthologue:

Prph2

Mouse Description:

peripherin 2 Gene [Source:MGI Symbol;Acc:MGI:102791]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa16100	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa16100

Status:

Available for shipment
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Availability:

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Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000002217	Nonsense	83	364	1	3

Genomic Location (Zv9):

Chromosome 17 (position 40048552)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	39933349
GRCz11	17	39880477

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTGGGTCTTATAGCCTGTGTGATTAACTTTCTGGGTGGAAAGATCTGCTA[T/A]GACWGTGTGGACTCCAGTAGGTTCCTGCACTGGAAGTTKGTGATGTTGCC

Long Flanking Sequence:

ATGAGGGTGCCACGTCAATACTGTTTGGCAATTGTGGATCAAGGCATTGCCATTGACAGAATCTGACTAAGTTAGCATAAGATGCTAACTGCTAAGAATAATTTGCCCATTCATGTCATCTCCCATCAACCTTGTAAACCTTCTGATTGACTTACATTAAAAATGTCCAATTTACACATGAATTAGAACTCCTATTAGTTCAATTTCAAGTGTTATTATTTGCAACTTTGAAAAAGTAGCACAGTGTCAAGAATGGCAGTATTGCCGGTAAGATTCACCAAAACTAAAAGAGACAAGCTAGCCCAGGTCTTGTGGGTGCTCAACTGGATTTCTGTTGTAACGGGAATCATCCTCTTTAGCTTGGGCATCTTTCTGAAAGTGGAAATTTATAAGCGACAGGATCTAATGGCCGAGGGTCAACTCCAATCTGTCCCAAACATGCTGATTGTGGTGGGTCTTATAGCCTGTGTGATTAACTTTCTGGGTGGAAAGATCTGCTA[T/A]GACTGTGTGGACTCCAGTAGGTTCCTGCACTGGAAGTTGGTGATGTTGCCGTACATCATTTGTATGTTTTTCTTCACTTTGAGCGTGTTGGTGGGTGCGCTGATGTGCTACAGCATGCACAGCCAGCTGGAGGAGTCGCTAACATTAGGGTTACGTGACGCTATGCGCTACTACAAGGACACGGACACACCGGGACGCTGCTTCTTGAAGCGCACAGTAGACCTGCTGCAGATGCAGTTCCAGTGCTGTGGGAATGAGGGATTCAGAGACTGGTTTCAGATCCAGTGGGTCAGCAACCGGTACCTGGACATGTCGCAGCGGGAGGTGGTTGAGTAAGTTGGGACTTTAAAATAATAAATTAAATCATAAAGCTATTAAAAAAATTAAGGACCATTTGAAAATGTTAAGTTTTTCTGGTTCTACTGGATTTATTAAGAAATGTTTATTAGGTTTGAGTATAAAATGATTATATATAATTTGTTTTCAGCAAATTTCTGATA

Associated Phenotype:

Not determined