ZMP

ptbp1a

Ensembl ID:

ENSDARG00000019362

ZFIN ID:

ZDB-GENE-050522-492

Description:

polypyrimidine tract binding protein 1a [Source:RefSeq peptide;Acc:NP_001018313]

Human Orthologue:

PTBP1

Human Description:

polypyrimidine tract binding protein 1 [Source:HGNC Symbol;Acc:9583]

Mouse Orthologue:

Ptbp1

Mouse Description:

polypyrimidine tract binding protein 1 Gene [Source:MGI Symbol;Acc:MGI:97791]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa17243	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa17243

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000017668	Essential Splice Site	249	574	8	16

The following transcripts of ENSDARG00000019362 do not overlap with this mutation:

ENSDART00000141564

Genomic Location (Zv9):

Chromosome 2 (position 26442453)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	26638649
GRCz11	2	26294283

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGCTCTGGTTCAATACTCAGACGGAATGACWGCTCAGCATGCAAAGCTGG[T/C]GAGTGGCACAGTGGAWCAATATATGAATGGATGAATGGGCAGCTAAATCC

Long Flanking Sequence:

GCAATTACTTGATACAAATGACTCCGTCAAGAGTGATAATGTATACTTGTGCCCTGCCCCTTTAATTCCCATAGAGAGCACAGGCTGCTCTGCAGGCGGTGAATGCGGTCCAGACAGGAGGCATGTCTTTGGCTGCTATTGATGGAGCAGGCATGGGGAGCCAGAGCCCTGTGCTGAGAGTTATTGTAGAAAATCTCTTCTATCCAGTCACTCTTGATGTCCTTCATCAGGTACTGACTGTCCTTCAGAAACCAAATTGAGTGTTTAAATGTATGCATATTTAATGTCTATGTAATGTTAATAGATTTAATTACTTAATGTTTAATTTATAATGTAAATATATTTTAATGTTGCCATTTAAATTGTTACCATTTTTTTCCCCATTTAGATCTTTTCAAAGTTTGGCACCGTTTTGAAGATCATAACCTTTACCAAAAACAACCAGTTTCAAGCTCTGGTTCAATACTCAGACGGAATGACAGCTCAGCATGCAAAGCTGG[T/C]GAGTGGCACAGTGGATCAATATATGAATGGATGAATGGGCAGCTAAATCCCTTCTGAACCTTGTAATCATTTGGCTTAACATTAAACAGTCTTTAGATGGACAGAACATCTACAATGCCTGCTGTACCCTTCGCATCAGTTTCTCTAAGCTCACCAGCCTGAATGTTAAGTACAACAATGATAAGAGCAGAGACTACACTCGCCCCGACCTGCCAACAGGAGACAGTCAGCCCTCCTTTGATGCACAGACAATGGCAGCAGCCGCCTTGAGTAAATTTGATTATTATTGCTGTAGTTAAATGATATACTTAACATATAAAATAACAAACTGCTTTCTCTCTCTTAGCTGCTCCTGGTATTATCTCTGCATCACCTTATGCTGGAGCTCATGGTTTCCCACAAGCATTTGCTATTCAGCAGGCAGCAGGTCAGTCATGGCTTTAATAGGGTCTTTTTTTTTTTCTTTTTTTTTTTTGGCATAATTCACAATGAGTCTGATC

Associated Phenotype:

Not determined