ZMP

zgc:194342

Ensembl ID:

ENSDARG00000055856

ZFIN ID:

ZDB-GENE-080723-36

Description:

hypothetical protein LOC100170794 [Source:RefSeq peptide;Acc:NP_001124104]

Human Orthologues:

TOR1A, TOR1B

Human Descriptions:

torsin family 1, member A (torsin A) [Source:HGNC Symbol;Acc:3098]
torsin family 1, member B (torsin B) [Source:HGNC Symbol;Acc:11995]

Mouse Orthologues:

Tor1a, Tor1b

Mouse Descriptions:

torsin family 1, member A (torsin A) Gene [Source:MGI Symbol;Acc:MGI:1353568]
torsin family 1, member B Gene [Source:MGI Symbol;Acc:MGI:1353605]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa44040	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa44040

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000078253	Essential Splice Site	197	323	3	5

Genomic Location (Zv9):

Chromosome 23 (position 37631019)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	37430247
GRCz11	23	37532909

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TACAATGTGGATGGAGTATCATTTCACACTGCGATCTTCATTTTTCTAAG[G/A]TAATGCACTAAAATGTTACTGTCAGATCCAAATGGAGTCCAGACTCCATA

Long Flanking Sequence:

TCTCTACGGACAGCACATCGTCTCTGATGTTGTGCCAAAATCTGTATCATTCTTCATGACTGACAAAAACCCAAACAAACCTCTGGTCCTTTCTTTCCATGGGACTGCGGGAACTGGAAAAAACCACGTTGCTAAAATCATCGCAAGAAATGTATATAAAAAAGGAGAGAAAAGCAAGCACGTTCACACATTTATATCTCAGTTTCATTTCCCACATCAAGAAAATGTGCACATGTACAGTGTAAGTCAATATATTCAGTATTTGTAGCATTAAACTATAATTGTATAAGTATAAACTCGGGTTTTCTTTTTCTTCATATTCAGGCTCAGCTAAAGCAGTGGATTCATGGAAATGTATCCAGCTTTCCCCGCTCCATGTTTATATTTGATGAAATGGACAAAATGCATCCAGAGCTGATCGACATCATAAAACCTTTTCTAGACTACAATTACAATGTGGATGGAGTATCATTTCACACTGCGATCTTCATTTTTCTAAG[G/A]TAATGCACTAAAATGTTACTGTCAGATCCAAATGGAGTCCAGACTCCATAAGACTGAAACTAATGAGGATCTGTGTTTATTTGTAGTAATGCAGGTGGCAATGTGATTGTTGACTTGGCTCTGGACTTCTGGAGAAAAGGGAAAAGTCGGGAAGAACTAAGGATGAACAGCAGCAAGCTGGAGACTAAAATCTCTAAAGACATCTTTAATGGAAACAGTGTGTATTAACGATGCACTAACATAAATATATAGATTTTTATATCAATAGGGCATCACGGTGGCGCAGTGGGTAGCACGATCGCCTTACAGCAAGAAGGTTGCTGGTTCAAGCCTCGGCTGGGTCAGTTGGCGTTTCTGTGTGTTCTCCCTGTGTTCATATGGGTTACCTCTGGGTGCTCCGGTTTCCCCTACAAGTCCAAAGACATGTGGTATTGGTGAATTGGGTTGGCTAAATTGTCAGTAGTGTATGTGTGTGAATGAGTGTGAATGGATGTTTCCCA

Associated Phenotype:

Not determined