ZMP

pitpna

Ensembl ID:

ENSDARG00000039490

ZFIN ID:

ZDB-GENE-040426-744

Description:

phosphatidylinositol transfer protein alpha isoform [Source:RefSeq peptide;Acc:NP_957229]

Human Orthologues:

PITPNA, PITPNB, PITPNM3

Human Descriptions:

PITPNM family member 3 [Source:HGNC Symbol;Acc:21043]
phosphatidylinositol transfer protein, alpha [Source:HGNC Symbol;Acc:9001]
phosphatidylinositol transfer protein, beta [Source:HGNC Symbol;Acc:9002]

Mouse Orthologues:

Pitpna, Pitpnb

Mouse Descriptions:

phosphatidylinositol transfer protein, alpha Gene [Source:MGI Symbol;Acc:MGI:99887]
phosphatidylinositol transfer protein, beta Gene [Source:MGI Symbol;Acc:MGI:1927542]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa22661	Splice Site, Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa22661

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

C > T

Consequence:

Splice Site, Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000057257	Nonsense	99	271	5	11
ENSDART00000057697	Splice Site	None	271	None	12
ENSDART00000132028	Splice Site	None	271	None	12

Genomic Location (Zv9):

Chromosome 15 (position 27768319)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	15	28486559
GRCz11	15	28419435

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CTTTTTTTTTTTTTTTTTTTGTAAATCAAATCTGTTCTGTGTCTCTTTTA[C/T]AGAATGAGTACATGAAGGACAATTTTCTAATCATGATTGAGACGTGGCAC

Long Flanking Sequence:

TTCAGTTCTTACGGTGAGTGTAATGAAACCAGTGTAAATCTGTTCATGTTTTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAATTTATTTTTTTTGTTAACTTAGAAAAGTTGGTTTCATATAGGTTGCTTTTGATTTATATATATATATATATATATATATATATATATATATATATATATATATTATTTTTTATTTATTTTTTTAAATACAGTAAATCTAAAATATTGTAAAATGTTATCGCAATTTAAAGTAAGTTTTTATTTTAATATATTTTAAAAATTTAGTTCTTTTCTAACCAATATTTTAAAGCAGTTATAGGATGCGGTACTGTTTCATTTTCTATAATTCTTCTTTTTAAATAATTTTCTCTTTTATAATTTAATATATTTTTTTTTCTTTTTAGAATTCTTTTTTTTTTTTTTTTTTTGTAAATCAAATCTGTTCTGTGTCTCTTTTA[C/T]AGAATGAGTACATGAAGGACAATTTTCTAATCATGATTGAGACGTGGCACAAACCTGACCTTGGTGAACAGGAAAATGTGAGTAGGCAACCAACATTATGCAGATTATAATACACAGGACAACAAGAAGCAAAATTTGAAAACATTAATAAATCTTGCAAAACTAATCACATCCCTTCTGTTTTTTTTAAAGGTTCATAATCTTGACTCTGAACGATGGAAACAGGTTGAGGTGATACATATTGACATTGCTGACAGATCTCAGGTGGACACTAAGGTAAAGAAAATGCTCTTTAATTCAGATGCATAATTAAACTCATGTTTCACTTTTTTCGGTGGTGTAACAATAGTAGTCAGCTTGGACTCATTACTGTTTACGCTTCTATTGAAAGTGACATAGGGTGCTTTCACACCTGTGAATCGATTCAGTTGTTCCGAAACAGAGATTACTATTGCTACATTGTTGCTCTTTGCTCTTGGCGTTGTTCGCTTTCACACGGC

Associated Phenotype:

Not determined