ZMP
ENSDARG00000010524
Ensembl ID:
Human Orthologue:
EDEM3
Human Description:
ER degradation enhancer, mannosidase alpha-like 3 [Source:HGNC Symbol;Acc:16787]
Mouse Orthologue:
Edem3
Mouse Description:
ER degradation enhancer, mannosidase alpha-like 3 Gene [Source:MGI Symbol;Acc:MGI:1914217]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa23886 | Nonsense | Available for shipment | Available now |
sa13743 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23886
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000024720 | Nonsense | 166 | 837 | 6 | 20 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 11981563)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13682737 |
GRCz11 | 21 | 13779466 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGGTTTGTTGGGTGCACATGTGATGGCTGATGTTTTGAAGCAGCGTGGA[C/T]AGAGAATGCAGTGGTACAGAGATGAACTGTTACACATGGCCAAAGAGCTA
Long Flanking Sequence:
TAGATACTCTTGTGGTGAGTTCAATCTAGTCAGATTTGATGGAAGTAAAGCATCAACATGTATTTAATGAAATACACCAATGCAACCAGACATTTTTTGCACGGGAAAGTACTAATGGAAACATCTAGACCAAATGCAATTATGTTTGTGTGTGTTTTGAACAGTTGTTAAACAAACTGGACGAGTTTGAGGAAGCTGTGAAAAAGATCATGAGAGACGTCAGACTGGACAATGACATCGTCGTCTCTGTTTTTGAGACCAATATCCGTGTGCTCGGGTGAGGCTCATGATGTTTTTGTTTCTTCAATCTTTTTTTAAAATCACACTGCAAATTTTTAAATAATTTAGATGTTGGGCACCAGTTTTTCAGGCTATATTGTTCAAGTTGATTGTTTTCAAGGGTATCCATTAAGAAGCACATCACTGATTAAAGCTCTCCCTGTTCTTGTAGCGGTTTGTTGGGTGCACATGTGATGGCTGATGTTTTGAAGCAGCGTGGA[C/T]AGAGAATGCAGTGGTACAGAGATGAACTGTTACACATGGCCAAAGAGCTAGGATACCGCCTGCTGCCTGCCTTTAACACCACCAGTGGCCTTCCTTATCCTCGGGTAACATTATCATTATTATTATTATTATTATTATTATATTTTTTATTATTATTATTAGAAGGTAAAATTCACTTAGATTCAGAGTATTTGACAAACTGATTAAAATAGCGTTCAAACTTATTTATCTTTACTTCGAATTTTTATTTCAATGACATATTAAAATTATTGTTTTAAAAAGAATTTTCATTGAATAATTAAAAACTAAGGCAAATATAAAACATGTCACACAAGGGTTTTATGGGAGTGTATTGAATTAAATAAAAACATTTGGCATGTACATTTGATCACAAATGCAACTAAAACAATATTGATGTAAAATATTATTACAAGATATAAAAATGATTCATTTTAATATATTCTATTATCTAATCCATTAATTTAATGATTAGGCTGAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13743
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000024720 | Nonsense | 417 | 837 | 13 | 20 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 11976479)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 13677653 |
GRCz11 | 21 | 13774382 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTTTAAATACCATTTCTGGCCTTGTTTTCWAGGCTACAGGTGATCCGTA[C/A]KACTTGAAAGTGGGCCAGTCTATAGTGGAGAAGCTGAACGCTCATGCTCG
Long Flanking Sequence:
AGGCACTTCATAATTTCTTTCATTTTTATTTCTTCTAGAATCTTTAGCTTAGTCATCGTTTCCTGTTCGCAACCAAAATGTGCTTACTTGCTTGAAGCCATTCTCGTTTGTTTATCAAAGAAGTTCTGACAACCTCTGTGTGTGCGTCCTGTTGCAAAATGTAGCAAAAAAGTTCAGCAAAACGGTAATAGTTTGATTAGGTGTTTACATATCTATACTGCACTTGAATTTTGTGACTAAAAATGAATTATTAAATAAATATATTAAATATATAGTTTAATTAAGACTTTAGTTGAATTAAGGTCATCAAAAATCTCAGTTTATATGGTAGACCCTTAATCAGACGATTGTCTTATTAAAATCAGAGTATTGGTGTCTATATACTCATTGTGAACGAGCTTAAGGGTCAGAGTTGACTTGTCAAACCAGTTCAAATGTCTACATTCATTATTTTTAAATACCATTTCTGGCCTTGTTTTCTAGGCTACAGGTGATCCGTA[C/A]TACTTGAAAGTGGGCCAGTCTATAGTGGAGAAGCTGAACGCTCATGCTCGGGTCCCCTGTGGTTTTGCCGCTGTGCAAGATGTGAGAACAGGAACTCATGAGGACAGGTGAGAGTCTGTTATTTGGTCTTATTTTCCCTAATTTCTGTTTAATAAAGAGAAGATTTTTTTCAACACATTTCTAAATATAACAGTTTTAATAACTCATTTCTGATATCTTATTTCTTTTATCTTTGCCATGATGACAGTAAATAATATTTTATTAGATATTTTTCAAGATACTACGTGACATTTAAAGGCTTAACTAGGTTAATTTGGTTAACTAAGCAGGTTAGGGTAATTAGGCAAGATATTGTATAACGATGGTTTGTTCTGTAGACTATCTAAAAAAAATTGCTTAAAGGGGCTAATAATTTTGACCTTAAAATAGTTTTTAAAAAACTAAACACTGCTTTGTTTCTAGCTAAAATAAAACAAATAGAAAATAAAAAGGAAAAATGT
Associated Phenotype:
Not determined