tmed1a

Ensembl ID:
ENSDARG00000031325
ZFIN ID:
ZDB-GENE-040801-229
Description:
transmembrane emp24 protein transport domain containing 1a [Source:RefSeq peptide;Acc:NP_001003487]
Human Orthologue:
TMED1
Human Description:
transmembrane emp24 protein transport domain containing 1 [Source:HGNC Symbol;Acc:17291]
Mouse Orthologue:
Tmed1
Mouse Description:
transmembrane emp24 domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:106201]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa15282 Nonsense Available for shipment Available now
sa3428 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa15282
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047071 Nonsense 26 226 1 4
Genomic Location:
Chromosome 3 (position 48423624)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTTTTCTATCCTTCCTGACGCTCTGTCTGGATTTGGGATTCACTTTCGGA[C/T]AGAATAAAGACACCGAGTTCACCTTCCTTCTGCCTGCTGGAGCAACCGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3428
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000047071 Essential Splice Site 59 226 1 4
Genomic Location:
Chromosome 3 (position 48423522)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCTTCTTYCAGACGGCCACCAAGAACAGCAGCATGGAAGTGGAGTACCAG[G/A]TCAATACAAACTTTAACTAAATATTTTATTAGACTTCAGGTTCAAATAAA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/s5y2vvom