ZMP
ell2
Ensembl ID:
ZFIN ID:
Description:
elongation factor, RNA polymerase II, 2 [Source:RefSeq peptide;Acc:NP_001077281]
Human Orthologue:
ELL2
Human Description:
elongation factor, RNA polymerase II, 2 [Source:HGNC Symbol;Acc:17064]
Mouse Orthologue:
Ell2
Mouse Description:
elongation factor RNA polymerase II 2 Gene [Source:MGI Symbol;Acc:MGI:2183438]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa23869 | Essential Splice Site | Available for shipment | Available now |
sa37248 | Nonsense | Available for shipment | Available now |
sa23870 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa23869
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000102404 | Essential Splice Site | 60 | 132 | None | 10 |
ENSDART00000102408 | Essential Splice Site | 60 | 655 | None | 12 |
ENSDART00000130635 | Essential Splice Site | 80 | 635 | None | 15 |
The following transcripts of ENSDARG00000006251 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 10178315)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 11661678 |
GRCz11 | 21 | 11754306 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAATGCACCGTCCACACAGGCGACGATACGATTTCAGGGTCTTCAAGGGG[T/A]AAGTTCAGTTCATGTTAAATTGTAAAAACTCATCTAATTGCAGTATACAT
Long Flanking Sequence:
GCATAGACAGAAAATTGTATCTGTATTTTCGGGTATAGTCATTAATAAAGCCTTATATCTTTGTCTTTAAATCTTAAATTAAAATAAGTCAATAAAAAAATACTAAAGTCACCATTAAGTTTGATCAAGCCTCAGTTAAAAAATGTATTTAAACACAAATTCAATTGCTTCATTCAAAATTGCTGCTTCATTTAGAAACAAAGATTGTCTTATGAATCGTTTGTTAAAATATTAACTCAAATGATTTATTCATTTAGGAACTTGTTTGTTGAACTGTTGTTTAAGACCTTCACATTGTTGTTTGCTCTTAAATTCATATTTTTTGGGAAAAACTCTTGTTTGTATGATAATAATGATCTATGTCAAAACTTGTCATACCATGATTTTGTGCTTGATATACTTCTTAGCCGTATGTGGTTATGTTGACATTTGAATATTTCATCTTTTGCAGAATGCACCGTCCACACAGGCGACGATACGATTTCAGGGTCTTCAAGGGG[T/A]AAGTTCAGTTCATGTTAAATTGTAAAAACTCATCTAATTGCAGTATACATGAAGATAGCCGAAGAAGCTTACATGGTGTTAAACAAACATTCAAACACCTTATGTTGAAATGAGTTTTGCAGCATCATCGGTGTCATCCACAACTGAAGAGTGCGAGTTACTCATCAAAGCACTCTATAATTATGAACCTGGTGTCTTAATAGAGAGTCTACAGCCTTCTGTGGTCTTACTGGGCGGCATTTCACTTTTCCCCTGTGATAGCGGCCATTTAACCTCTGACCCTGTGCACCATGCTGTAGTTTGCGTCAGACACTGTGTTACTATAAATACTGGGTGGACGAGTAAGGTTCCTGTTTTACACTCATAAATATTCTCTCTAAAGACAGTCGTTTAACTCTTGTCTGTCCTGGAGTTGAGATGTTATTTTGAACTCCTGGGTGATCTGACAAGATCTCAAATTCTAGTTGGCTGCTTTGCCATCTTTTTAGGCAGGATCTATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37248
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000102404 | Nonsense | 79 | 132 | 3 | 10 |
ENSDART00000102408 | Nonsense | 79 | 655 | 3 | 12 |
ENSDART00000130635 | Nonsense | 99 | 635 | 4 | 15 |
The following transcripts of ENSDARG00000006251 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 10183092)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 11666455 |
GRCz11 | 21 | 11759083 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAATTCCAACCACAGAGGCTTCCGATGGCTCTCATAACTTCAACTTTTA[T/G]CTGTCCAACTTTGGCAAAGACAATCCTCAAGGAAGCTTCGAGTGTATCCA
Long Flanking Sequence:
GACGCACAGCACTACTACGGTTACAGAAAAGTTTGCGCTGTTATAATTCACTTACCCTATAATACGTTTTGGTGCAATTATTACCCGCTATTAAAAAAACTAAATATTTTGAATGAGAAGCTGAAATGTAGCCGTGGCAGAATGAATTTTGGCATGGCACCCCGCCATGGAAGAATGAATGCAGCGGAAACCATGTGTAAATAAACAAATAACATAATCGGTCATTAATCTTAATCGCGTTAAAATGTTCAATTAATCGAGTTTTTTTTTTTTTTGTTTTTTTAGGCCAAATCGTCCAGTCCTACCTCTGATCCTCTAAAGATGTTTTAAATGATTGTCTATGCAGCCCTCTTGTGTTTTAATATCTTTAGTTTTTAATGATACCAAATAATTAGAGTAGAATTTGATTGTAATTTAGAGTTTGTTTTATCTTCACCCCTTCAGCGCATTAAAATTCCAACCACAGAGGCTTCCGATGGCTCTCATAACTTCAACTTTTA[T/G]CTGTCCAACTTTGGCAAAGACAATCCTCAAGGAAGCTTCGAGTGTATCCACCAGTACATATCTAGGTAAGCGCTGATTTTAATGACTTGTGTGTCAAAAGCACTGTTCGGTTTGCTGTTGTTTCTCATTTTGAATCACTTGTGCCTGTTAGCTCTGGGATCCCCCATTTGTCTTCGCTTGGAACGATTCAAGACAAAATCACAGTATGCGCCACCAATGATTCCTATCAGGTGACCAAAGAGCGTGTGACCAAAGCAGAGGAGGACAAAAGCAAGAACAGCACCAAATTCATCAAACCCGGAGGACCGTTCCGAGGTTTGATATTATTGCAGAGTATTAAAAATTTGTCATGTGAATCAATTAAGTGGCCACAACTGCAAATGTAAAAAAAGTCCAAAGGGTTTTATGATTACATTTTAATTTAGCATTTCAAATATTTCTGGCTAGCCTCTCAGTTGAATCATTACTGTCATTAAAAAAAATCCGTCTACACACCTGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23870
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000102404 | None | None | 132 | None | 10 |
ENSDART00000102408 | Essential Splice Site | 617 | 655 | 11 | 12 |
ENSDART00000130635 | Essential Splice Site | 597 | 635 | 14 | 15 |
The following transcripts of ENSDARG00000006251 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 10196541)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 11679904 |
GRCz11 | 21 | 11772532 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACAGGAAGTGCATGAACAGGTGCTGCAAGAATATAAAAAAATTAAACAA[G/A]TGAGTGTAACTGAGCACGTCTAACCCATCTGGTCTTTTAAACAAACCTAT
Long Flanking Sequence:
AAATGTATAATAAAGTTTTAATAAAGGCTTTAACTCTCAAGTAACTATTTATGGCAAAATACCGGATACATATTGTATACCGTCATTCCTCCTAAAAATACTGGGATATGATGTTTTGCCCATATCGCCCAGCGCTACATTGTGATATAAATGCTCAAACGATGTATAACATTCAGCCCTACAAGGAATAATAATAAAAATAGTTATCTGTTTTTAGCCGACTTTAATAACCCCGTTTTACACACTGTAATTGTGTACATACACATTGAAAATAAAATTATATTTGTTGCTTCTTCAAAGTACTTATGTAAAATCAGCTGAAACCACACAACTCTTGATATGTTTTGGGGGAGAACAACTTGATTGTTTTATGTTCAATCCAGTTAAACTATTTTAGATTAATCAATTTGTGGGCAAACCCTGCATTTGGTTTACAGTGTGTTTTCTTTCAACAGGAAGTGCATGAACAGGTGCTGCAAGAATATAAAAAAATTAAACAA[G/A]TGAGTGTAACTGAGCACGTCTAACCCATCTGGTCTTTTAAACAAACCTATCATCAGATGAAAACCAGTGTGCTAATATACACTGTTTGCTTTACAGCACAGCCCAAACTACTATGAAGAAAAACAGCGCTGCGAGTACCTGCACAACAAACTAGCCCACATCAAGCGGCTCATCGCTGACTTCGACCAGCGGAGGGCGCAGTCCTGGCTGTAGGTGCGCGGGACCAAACAACCCCCCTCAGCCAATCAGAGCGCTCCTCAGCCAGAGGACCATCTCAAGGAGAGCGCGGGGATCAAACAGCTCCTTATTTATTCTATTTACAGATTCCCCACCGCTCGCCTGTTTCTTTTTTCTCCCCATACCTGGCCTTCTTCATCACTCTCATTGTTCGTTATTCATCGTTTCAATTATTCCTTTCTTTTTGTTTTTGAAGGACTTTTTGAAAGAAAAAAATGAAAAGTTCCGCAATGCAAAACCGTGGGCCTTACTGCGTATATTTC
Associated Phenotype:
Not determined