rnpep

Ensembl ID:
ENSDARG00000012506
ZFIN ID:
ZDB-GENE-040718-241
Description:
aminopeptidase B [Source:RefSeq peptide;Acc:NP_001002741]
Human Orthologue:
RNPEP
Human Description:
arginyl aminopeptidase (aminopeptidase B) [Source:HGNC Symbol;Acc:10078]
Mouse Orthologue:
Rnpep
Mouse Description:
arginyl aminopeptidase (aminopeptidase B) Gene [Source:MGI Symbol;Acc:MGI:2384902]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa41838 Nonsense Mutation detected in F1 DNA During 2016
sa21906 Nonsense Available for shipment Available now
sa21907 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa41838
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000005616 Nonsense 170 626 2 11
ENSDART00000133481   None 276 None 5
Genomic Location (Zv9):
Chromosome 11 (position 25708568)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 24537393
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACCGCTCCTGCTTCCCGTGCTTTGATACTCCAGCAGTCAAGAGCACCTA[C/A]TCAGCAGCAGTTCAGGTGAGGCCATTGGGCCGCTCCAATGTAAAGAGATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21906
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000005616 Nonsense 421 626 8 11
ENSDART00000133481   None 276 None 5
Genomic Location (Zv9):
Chromosome 11 (position 25715534)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 24544359
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACGTGCTGATAAACATGTCAAAACAGTGACTGTGTCTCTTCAAGGCTTA[T/A]GTGGAGAAGTTCAAGTTCAGAAGTGTGCTGGCCGAGGATGCGCTGGAGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21907
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000005616 Nonsense 569 626 10 11
ENSDART00000133481   None 276 None 5
Genomic Location (Zv9):
Chromosome 11 (position 25716161)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 24544986
KASP Assay ID:
2260-4282.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGTGCGATGGGCTCAGATTGTTGCAAAAAACCAGTATAGTCCAGGATTC[C/T]AGCACATTCGGGATTTCCTCTCAAGCCAGGTCAGATTTTCTACTTTATTT
Associated Phenotype:
Not determined

GWAS

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

  • Butyrylcholinesterase levels: GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors. (View Study)

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

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