pitpnb

Ensembl ID:
ENSDARG00000036005
ZFIN ID:
ZDB-GENE-040426-895
Description:
phosphatidylinositol transfer protein beta isoform [Source:RefSeq peptide;Acc:NP_957214]
Human Orthologues:
PITPNB, PITPNM3
Human Descriptions:
phosphatidylinositol transfer protein, beta [Source:HGNC Symbol;Acc:9002]
PITPNM family member 3 [Source:HGNC Symbol;Acc:21043]
Mouse Orthologue:
Pitpnb
Mouse Description:
phosphatidylinositol transfer protein, beta Gene [Source:MGI Symbol;Acc:MGI:1927542]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa15880 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa15880
Current 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
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Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052268 Nonsense 272 272 11 11
ENSDART00000123086 Nonsense 274 274 10 10
Genomic Location (Zv9):
Chromosome 10 (position 4092913)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 4084907
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTAGCTTCGTAAAACTGGTCAGGTYCGAGGCACCAGTGCTGCTCAYGAA[C/T]AATGAGGCAAAACTTCAAGAAATCTTCTACGATGACGAAAGACATCAAGA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Obesity: A genome-wide association study on obesity and obesity-related traits. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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