zgc:112175

Ensembl ID:
ENSDARG00000037810
ZFIN ID:
ZDB-GENE-050417-220
Description:
hypothetical protein LOC550414 [Source:RefSeq peptide;Acc:NP_001017719]
Human Orthologue:
C6orf105
Human Description:
chromosome 6 open reading frame 105 [Source:HGNC Symbol;Acc:21214]
Mouse Orthologue:
9530008L14Rik
Mouse Description:
RIKEN cDNA 9530008L14 gene Gene [Source:MGI Symbol;Acc:MGI:1924596]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa10000 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa10000
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039829   None 242 None 6
ENSDART00000111669 Essential Splice Site 212 456 5 11

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 23 (position 4405520)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 4415544
GRCz11 23 4354445
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GACACCACCAGAAATCCAAGGAAAYATCTACTTCRWCAAGTCCTGAAAAG[G/A]TATCGTATGGCTTTACCTTGCACYAGAGGCTGTTCTTAAAGTATTRAAAG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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