Busch Lab

ZMP

zgc:101583

Ensembl ID:
ENSDARG00000026682
ZFIN ID:
ZDB-GENE-041212-75
Description:
hypothetical protein LOC494104 [Source:RefSeq peptide;Acc:NP_001008647]
Human Orthologue:
NIPA2
Human Description:
non imprinted in Prader-Willi/Angelman syndrome 2 [Source:HGNC Symbol;Acc:17044]
Mouse Orthologue:
Nipa2
Mouse Description:
non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:19

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa22529 Essential Splice Site Available for shipment Available now
sa22528 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa22529
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
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035779 Essential Splice Site 1 358 None 6
ENSDART00000126334 None 1 358 None 5
Genomic Location (Zv9):
Chromosome 14 (position 40385765)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 38548999
GRCz11 14 38889313
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCATCGATATAACTTTAATATCTTACGGGATTTTATTCTAACTGCATTT[A/G]GATGGATGTTGCAAACCGCTCGGACTTTTACATTGGTCTGGCGCTTGCTG
Long Flanking Sequence:
CTTAAAACGCCACCGATGGACGAAACTAAGGCAAGGTTGGTTGATTTAAGAATAAAGTAACATGTATTTCTTTTAAAGGTTTTAATAGTACAGCTTTGAATGTGATTATAAATAAGCGACGTAACGTAAAACAACAACAGCAGCTAAGCAAATCCCATTAAGCTTATTTCGCAAAAAAAAAAAAACTAAAAACCGTTCTCGCTTATAAATATTAGTGATTAAAGCATTCACTGCAGTTATAAAAGTTTAATGGAGATGGACACAATTGTTTTGAAGAACTAACGACGAGAAAAGCAGCAGTGAGTCACATGATTTTCTTTCTTTTTATCCTGTCAGTGTTTTAAATCGTGATATGTTCCCTACATAGACATCACTGAGACGCGTTCTATCGTTTCATATGATGGTCGAAATGCTACCTAGGTAGGCAGCTCGCTAGGTTTTTAGATAGATTTCATCGATATAACTTTAATATCTTACGGGATTTTATTCTAACTGCATTT[A/G]GATGGATGTTGCAAACCGCTCGGACTTTTACATTGGTCTGGCGCTTGCTGTAAGCTCCACTATCTTCATCGGTGGCAGTTTTATATTGAAAAAGAAGGGGCTCCTACGTCTGGCATCAAAGGGGTCCACTAGAGCAGGTGGGTAAAATGCATGTTTCCCTTACATATACAATACTCTTGTATATATGAAATGCATTGATTTTTGTTTTGTTTTTGTGTGTTTCACTTTCAGGTCAAGGAGGATATGCATACCTAAAAGAATGGTTGTGGTGGGCAGGACTAATATCAAGTATGATATAATTGTTCTATGTTTTTATTTACCATTAATGGAGATTAATTATAATGTTTAAACAGAATATGTTTTCAATCAGACGTTGCATGTGTCCGTGATTGGGGATTTCAATAATGTGATATTGGTATCTATGCATTAATATATTATTATGGACACCACAGCAACTTTTTGTTTGTGTGTGTGCGCATTTCATTTTCAGTGGGAATCGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22528
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035779 Essential Splice Site 149 358 5 6
ENSDART00000126334 Essential Splice Site 149 358 4 5
Genomic Location (Zv9):
Chromosome 14 (position 40384527)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 38547761
GRCz11 14 38888075
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAGAAGTTGCTTCTTTATCTGCAATGGCAGAGAAACTCAAAGATCCAGG[T/C]AATGTTCAGTTGAATGTAACCCTTTACAGTGCAGCATGTATAAGTACACC
Long Flanking Sequence:
TTGGTTTTTGGAAGTTAAAACCTCCTTCATATCCTCCAGAGGGAAACTATTTAAAATAACTGTTCATTCTTTAAAGAAAGACCAGCCATGAATTAAAAAATCTATGCTACCAGCTATGTAAAATATTATTTGTTGTGTTTTGTTTTTTTTCAGGATTTTTCACTAAATAGAAAGCAAATACTGTATTTGTTATTAATTACAATATTTTGCCAAACTCTGTCGATCAATAAAATGCATGCTTGCAGGTTAAATGCATTAACAATCATTTTTATAAGCCTCGTACAATCTCAAACAACATTTCATTTATTATTATTTAATTTAATTCATTTTTTTGTCAGTGCGGTGCTCTCATCATATTTCCTGAGTGAACGACTGAATATCCATGGCAAGATTGGCTGTTTGCTGTGCATCTTCGGCTCTACGGTTATGGTGCTCCATGCTCCACAAGAGGAAGAAGTTGCTTCTTTATCTGCAATGGCAGAGAAACTCAAAGATCCAGG[T/C]AATGTTCAGTTGAATGTAACCCTTTACAGTGCAGCATGTATAAGTACACCCCTCACAAATCTATCTTTTAAATTCATATTTTTAATAGTAGCTATATAATATTATATTTGTGCAAATACATTAGATTAGTCAGTACTGAAGCCAAATCTGGAGCTTATCTAACAAATAGCTTGCAATAACGGTCCAACAACTAGTACACCCACATTTATATGTTAGAAAGACATCAAGAGAAGCAAAAAAATACTCGGTTTCACGATTATCACTGTCTCTCCACTCCCCTAATAGCTGGTGTGTGGTAAGCGCACTGGCGATGTTGTCCTGTGGCTGCCGTCGCATCTTCCAAGTGGATGTTGCACATTGGTGGTAGTGTGGAGAGAACTGATGTATTTATTCGCACTTGGTCACCATATCTGGACAATATAAACCTTGCTTTATGTGACATTTTGAAACTGGGAATGACATAATGAATATATAGACATTCATTCATATGTATTCTGTTT
Associated Phenotype:
Not determined