ZMP

aph1b

Ensembl ID:

ENSDARG00000005612

ZFIN ID:

ZDB-GENE-031118-31

Description:

Gamma-secretase subunit Aph-1b [Source:UniProtKB/Swiss-Prot;Acc:Q8JHE9]

Human Orthologue:

APH1B

Human Description:

anterior pharynx defective 1 homolog B (C. elegans) [Source:HGNC Symbol;Acc:24080]

Mouse Orthologues:

Aph1b, Aph1c

Mouse Descriptions:

anterior pharynx defective 1b homolog (C. elegans) Gene [Source:MGI Symbol;Acc:MGI:3522097]
anterior pharynx defective 1c homolog (C. elegans) Gene [Source:MGI Symbol;Acc:MGI:1915568]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa38614	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa38614

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000008096	Nonsense	183	258	5	6

The following transcripts of ENSDARG00000005612 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 7 (position 30519194)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	7	28911536
GRCz11	7	29182686

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCATTATCCTGCTCCACATGTTCTGGGGGGTGGTTTTCTTCGAGGCCTGT[G/T]AGCGTCAGAGATGGTGGGCTCTCGGAGCCGTGGTCGCCAGTCATCTAGTA

Long Flanking Sequence:

AAATAAGCAAAGGATTCCGTCAATGATTGACATTGGCAGTCAGTAGGAGGGTTGTTGTTAACCGTCTGTCATTGTATCTCTCACAGAAAAGCAAATGAAGGCCTGTTGGCTCTCAGTCAGGAGGACACCATGCCCATCTCCATGCGGCAGCTAGCTTATGGTAAACCTCCCTCACATGCTACTTCTCATGGTGCAATAGACATTCAGTGTTTATTAAAGTGTGTGTTGGTTTGCAGTGTCCGGTCTGGGCTTTGGCTTCATGAGCGGTGCGTTCTCTGTGGTCAACATCCTCTCTGACTCCTTGGGTCCAGGAACCGTTGGCATTCATGGCGAATCCCAGCATTACTTCATATCGTCAGGTAAAGAGACGTCAGCTTGTGTTTAGGCATGAGGATGGTCTCCAGTGTGACTGAGGTGTGTGTTTTCTCTCCTCAGCCTTCATGACTTTGGCCATTATCCTGCTCCACATGTTCTGGGGGGTGGTTTTCTTCGAGGCCTGT[G/T]AGCGTCAGAGATGGTGGGCTCTCGGAGCCGTGGTCGCCAGTCATCTAGTAGTGTCATGTCTGGTAAGTCAACATGTGTCGTGCTGTAATGCAGGGATTTCCAGATATTTCATCACCCTTGTGACCTTGAAATAGTAACAACAATAACAAAATAAAATAATAATAATAAAAACAATAGAATCTAAACTATGGAGAAATAGAAGTGATGCAATAGAAAATAAAAGCAAATATAAAATATTGAAAAACTTTTGATATAGAGTATGTGGCTGTAGAAAAAAAGGATTATATATATATATATATATATAAATAAAAGAGCTATCTGTACAAACAAAAACATGGAAGTGTTTTGAACAAAGTACCTGGTGCATAAGTGCAGAGGGAGTGTATCCTATAGGTCAGGGGTGTCCACACTCGGTCCTGGAGGGCCGGTGTCCTGTAGAGTTTAGCTCCAACCCTAATCAAACACACCTGAACCAGCTAATCAAGCTCTTACTAGATATA

Associated Phenotype:

Not determined