ENSDARG00000038226

Ensembl ID:
ENSDARG00000038226
Human Orthologue:
STAR
Human Description:
steroidogenic acute regulatory protein [Source:HGNC Symbol;Acc:11359]
Mouse Orthologue:
Star
Mouse Description:
steroidogenic acute regulatory protein Gene [Source:MGI Symbol;Acc:MGI:102760]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa24925 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa24925
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:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055743 Essential Splice Site 160 285 5 8
Genomic Location:
Chromosome 12 (position 49203601)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAGGGTGGAGGAGATGCATGAGTGGAACCCCAGCATCAGACGCATCACGG[T/G]CAGACTCTTTATCATTAGTATATCACTTTAAAAAAAACTAAAATGAAGTT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/p50fesfx