ZMP
LOC568741
Ensembl ID:
Human Orthologues:
AC103965.1, EFTUD1
Human Descriptions:
Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:A6NKW7]
elongation factor Tu GTP binding domain containing 1 [Source:HGNC Symbol;Acc:25789]
elongation factor Tu GTP binding domain containing 1 [Source:HGNC Symbol;Acc:25789]
Mouse Orthologue:
Eftud1
Mouse Description:
elongation factor Tu GTP binding domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2141969]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa20868 | Essential Splice Site | Available for shipment | Available now |
sa12887 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20868
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113905 | Essential Splice Site | 502 | 1133 | 13 | 21 |
Genomic Location (Zv9):
Chromosome 7 (position 13129014)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 12057128 |
GRCz11 | 7 | 12310089 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGCAGGAGGAGATTCAATCCCAGCCCCAGCCGCAGCAGGTGTCACAGG[C/A]AAGAATAAGACCTTTTTAATGATCAGTGTGTGAAATTGAGTGAGGAAAAT
Long Flanking Sequence:
AACATATGCTGGATAAGTTGGTGGTTCATTCCGTTGTGGCGACCCCAGATTAATAAAGGGACTAAGCTGGAAGAAAATGAAAGAATGAATGAATTAAGAAAATATTTTACATTTATTTATTTTTAAAATTTTTCTAAATATTTATTTTCTTTTTTTTTTATTTGTTTTATTGTTATTTTTTTCCTTTTTTTTTTTTTTTTAACTCCGGCAGATAAATGTGAGGGATTGCCCTGCCAATATTTCTTCATGTTATGGAAAATTAAATTGAGTGTGGTTATTTTAAAGGTATCGCTGGAAGGTATAAATTTGTGACGCTGTTAATAGTTTGTGTTGTGTTGTTTATTCAGACCGCTGACTCATGAGGAAATCTCCCAGAGAAGAGAACTGGCCCGACAGCGGCACGCAGAGAAACAAGCAGCCAATCAGAGTGCAGAGAGCCTCGCGTCTGGTGATGCAGGAGGAGATTCAATCCCAGCCCCAGCCGCAGCAGGTGTCACAGG[C/A]AAGAATAAGACCTTTTTAATGATCAGTGTGTGAAATTGAGTGAGGAAAATCGCTGTGGTTGAGTTTATGTTTTTAACTAATGCCTAGTTCAGACTGTGTGATTTTAGCCCTGATTTTGGCTCGCCGACAGGTTTTGAGAAATCGCAGACAAATGCCTGAAATCACAGGCAAATCGCTGCTCGTGCACGTGAGTGACAATCACACAGTATGAACTTTCAAAGACGCGATCGTAGAGAATCGCCGATGCCTGCGAGATATTTGGCGTGCTAAATATCTGGAGCTGTTGGCGATTCAAATCATACCGTGTGAATTGAGTTTTGACTGTAAATAACATCAGCGATCGTCTACAGCCAATGAGAGAGCAGCTTTCACTTGTGTGTGCGTGTGTGTATACCTGCTGCAGGCCAGCGGGAGGCTTGGGAAGAAGTTAAAAGCGCTCTTTTTCGGTTTATTTGGACCCACGAAATGGAGGAAAAACTAGTGGAGGTTTGACAGGACTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12887
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 |
---|---|---|---|---|---|
ENSDART00000113905 | Essential Splice Site | 1010 | 1133 | 19 | 21 |
Genomic Location (Zv9):
Chromosome 7 (position 12999897)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 11928011 |
GRCz11 | 7 | 12180972 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AYGGCTGCGATGTACACCTGCGAGATCATGGCCACGGCTGAGGTCCTGGG[T/A]AAGCTGASTTTATTCACRTTTCTTTGATTAAAAGACYGCMTTGGATTTAA
Long Flanking Sequence:
TTTGGTCCTCGCCGCTGTGGCCCAAATATCCTCCTCAACAGCATCGAGGGCTACAGAAGACCCTCTGTATGGCAGTGTCTGGAAACCGAGAAAACTGAGTCCAGCGCGCTTCGAGACTTCGACAACAGCATTGCCAGTGGCTTCCAGTTAGCGACACTCGCCGGCCCCATGTGTGAAGAGCCTTTGATGGGTGTGTGCTTCTCTGTGGAGTCCTGGGACATGAAGATTTCCACACCTGTAGCTCAGCAAGACTCCGTAGATGAAGGTTCCCAGCCTGCAGAGCTTAATAATGAGCATTCGGAAGTCTCTCCTGTGAGCTCTAGCCGAAGCCGGAGCAAAGCAGAGGCTGCTGGGAGTTCGGTTGACTGTTACGGGCCATTTTCAGGTCAGCTGATCGCCGCTGTGAAGGAGGCCTGCAGATACGCTTTCCAAGCCAAACCTCAGCGACTCATGGCTGCGATGTACACCTGCGAGATCATGGCCACGGCTGAGGTCCTGGG[T/A]AAGCTGAGTTTATTCACGTTTCTTTGATTAAAAGACTGCCTTGGATTTAAAAGTCTGAGTGTGCTAGTTTAGGCTCAGTTCAACAAGACAGTTCAGATGTTTTTTTTTATAATGTGTTAAAAAGTGTCATGTTGGGGGCGTGTACACAGCTCGCTGTTTTAGGGGCGTGTTGCTTCACATAAAAATTAGTTTCGGCTTCCCGCCCAACGAAACAAGGGGGCGGAGCCAAGAGCTCCCACACTCTCTGTTTGCAACAGACAGGCTGACAGAGAGATCAGCATTCAGCCGAACATGTACGACTCGGACACAGACCAAGCAGAGAGTACAAAATCAAAGACAAAATGTGTCTTTGTATAGTCTCGGTGTACAATTGCCGAGCTTGTACACCGAGACTAATAACCACACACACTAAATTAACTTTGACTGAGGCACTGAATGAACCGTGACACGGCACACCTGACACTCTCAGTGGCGCGGTTGAAACATGAAGTGTCCCGAAT
Associated Phenotype:
Not determined