scfd2

Ensembl ID:
ENSDARG00000040005
ZFIN ID:
ZDB-GENE-050320-143
Description:
sec1 family domain-containing protein 2 [Source:RefSeq peptide;Acc:NP_001013582]
Human Orthologue:
SCFD2
Human Description:
sec1 family domain containing 2 [Source:HGNC Symbol;Acc:30676]
Mouse Orthologue:
Scfd2
Mouse Description:
Sec1 family domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:2443446]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa37019 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa37019
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 2017.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058527   None 517 None 5
ENSDART00000131132 Nonsense 588 681 7 9

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 20 (position 22995048)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 23108435
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTGCTGAAGCAGGTGCTAGAGGAGATCTTCCACCCTGACAGACGTGAATG[T/A]CCTGATATAGAGCACATGTCTGGAGGACTCACTGAACTTCTCAAGACTGG
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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