zgc:112056

Ensembl ID:
ENSDARG00000020618
ZFIN ID:
ZDB-GENE-050417-147
Description:
ES1 protein homolog, mitochondrial [Source:RefSeq peptide;Acc:NP_001017662]
Human Orthologues:
AP001055.7, C21orf33
Human Description:
chromosome 21 open reading frame 33 [Source:HGNC Symbol;Acc:1273]
Mouse Orthologue:
D10Jhu81e
Mouse Description:
DNA segment, Chr 10, Johns Hopkins University 81 expressed Gene [Source:MGI Symbol;Acc:MGI:1351861]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa11130 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa11130
Current Status:
Available for shipment
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Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000015980 Nonsense 198 255 6 7
ENSDART00000134763 Nonsense 205 262 6 7

The following transcripts of ENSDARG00000020618 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 33833951)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 32989897
GRCz11 9 32800643
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGGGTCATGAGGAGGAGCAAGGTGGGAAGTGGCCATAYGCTGGTACCACA[C/T]AAACCATCACTGCACTGGGAGCCAAACATACTGTGAAAGATGTCACTATA
Associated Phenotype:
Not determined

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