ZMP
kdelc2
Ensembl ID:
ZFIN ID:
Description:
KDEL (Lys-Asp-Glu-Leu) containing 2 [Source:RefSeq peptide;Acc:NP_001092215]
Human Orthologue:
KDELC2
Human Description:
KDEL (Lys-Asp-Glu-Leu) containing 2 [Source:HGNC Symbol;Acc:28496]
Mouse Orthologue:
Kdelc2
Mouse Description:
KDEL (Lys-Asp-Glu-Leu) containing 2 Gene [Source:MGI Symbol;Acc:MGI:1923765]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37354 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa23997 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37354
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000021645 | Nonsense | 421 | 518 | 6 | 8 |
Genomic Location (Zv9):
Chromosome 21 (position 34017413)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 35017106 |
| GRCz11 | 21 | 35051596 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCACCATACTACGAGCACTTTTACACACATCTGAAACCAGGTGTACACTA[C/A]ATTCCTGTGAAGAGGGACCTTTCTGACCTCATCGAGAAGATTAAATGGGC
Long Flanking Sequence:
GTTTTTTTTTTAGCAATGTCCGATTCACACAGACTTTAAACTTAGAGAAAAAACAAATGTAGAAAGTGATCGATCCATCAATCAATCAATCAATCAGCCAATTAATCAAATGATCAATTATACTGTGTTTTGTGAATGACAACCATGATAACACCACAGATTGTCTTTGGACTGTTGTTTTACCCTACATAAAAAACATAACAACATACATGATACAACATTTTAACCATTACCAGTTGAAATTATTTTACAGATAGATGCTGATTTACTTAAAAGTGAATAAAAAAGCATGTAGTGTCCTCACCCTTTTTAATCGCAAACCTCTTTGCATCCCTGCTCTTCTCTTTAACCTTTTTTTAGTACAAGTACCAAGTGAATGTGGATGGGACTGTGGCGGCCTACAGATTTCCATACTTGATGCTGGGCAACAGTTTGGTCTTAAAACAGGACTCACCATACTACGAGCACTTTTACACACATCTGAAACCAGGTGTACACTA[C/A]ATTCCTGTGAAGAGGGACCTTTCTGACCTCATCGAGAAGATTAAATGGGCCAAGGTACAATCCATGTCCTTTGAATTTGTACAGTAACTGGATACATTAGCAAACAATTGTATTATATGCAAAGCCAAAAAAAAACAAAAAAACACTATATATATTTTTGCCCCCCTGCTTTGTTCAATGCACACAGAGCAACGACACAGAGGCAGAAGCCATAGCCAGGAGAGGACAGTCATTGGTGAGAGATCTGCTTCAACCTCATAGACTTTACTGCTACTACTACAAAGTGTTTCAGGTAAGAGTCTGAAATTTAAAGCTAAGTAAATGCTGAATAATTTGTTGATTTAATATAGGGTGTCTTCAAAATGTGTTTTGCTTCCCAGTTCATTCATAAGTTGCAAAGAGCTTTTTACTGTTTAGAAAAATGTATAAAGCAGCCAACAATGAACAGATTTCAGCTTAAACTACAATATATATGATCAATAATTCTGAAAAGTTAAGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23997
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000021645 | Essential Splice Site | 439 | 518 | 6 | 8 |
Genomic Location (Zv9):
Chromosome 21 (position 34017469)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 35017162 |
| GRCz11 | 21 | 35051652 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGAAGAGGGACCTTTCTGACCTCATCGAGAAGATTAAATGGGCCAAGG[T/C]ACAATCCATGTCCTTTGAATTTGTACAGTAACTGGATACATTAGCAAACA
Long Flanking Sequence:
ATGTAGAAAGTGATCGATCCATCAATCAATCAATCAATCAGCCAATTAATCAAATGATCAATTATACTGTGTTTTGTGAATGACAACCATGATAACACCACAGATTGTCTTTGGACTGTTGTTTTACCCTACATAAAAAACATAACAACATACATGATACAACATTTTAACCATTACCAGTTGAAATTATTTTACAGATAGATGCTGATTTACTTAAAAGTGAATAAAAAAGCATGTAGTGTCCTCACCCTTTTTAATCGCAAACCTCTTTGCATCCCTGCTCTTCTCTTTAACCTTTTTTTAGTACAAGTACCAAGTGAATGTGGATGGGACTGTGGCGGCCTACAGATTTCCATACTTGATGCTGGGCAACAGTTTGGTCTTAAAACAGGACTCACCATACTACGAGCACTTTTACACACATCTGAAACCAGGTGTACACTACATTCCTGTGAAGAGGGACCTTTCTGACCTCATCGAGAAGATTAAATGGGCCAAGG[T/C]ACAATCCATGTCCTTTGAATTTGTACAGTAACTGGATACATTAGCAAACAATTGTATTATATGCAAAGCCAAAAAAAAACAAAAAAACACTATATATATTTTTGCCCCCCTGCTTTGTTCAATGCACACAGAGCAACGACACAGAGGCAGAAGCCATAGCCAGGAGAGGACAGTCATTGGTGAGAGATCTGCTTCAACCTCATAGACTTTACTGCTACTACTACAAAGTGTTTCAGGTAAGAGTCTGAAATTTAAAGCTAAGTAAATGCTGAATAATTTGTTGATTTAATATAGGGTGTCTTCAAAATGTGTTTTGCTTCCCAGTTCATTCATAAGTTGCAAAGAGCTTTTTACTGTTTAGAAAAATGTATAAAGCAGCCAACAATGAACAGATTTCAGCTTAAACTACAATATATATGATCAATAATTCTGAAAAGTTAAGTGATGAGCAAATCCACAAACTTGTCAATTGACTGGATAGTTAGTGTTATTACAATGGT
Associated Phenotype:
Not determined