ENSDARG00000059295

Ensembl ID:
ENSDARG00000059295
Human Orthologue:
SCARB2
Human Description:
scavenger receptor class B, member 2 [Source:HGNC Symbol;Acc:1665]
Mouse Orthologue:
Scarb2
Mouse Description:
scavenger receptor class B, member 2 Gene [Source:MGI Symbol;Acc:MGI:1196458]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa37194 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa37194
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082375 Essential Splice Site 339 507 7 12
Genomic Location (Zv9):
Chromosome 21 (position 962485)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150405.1 24151
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAAGAAATGCCTGGATGACGGAGTGCTGGACGTGTCTGTGTGCCGGCAAG[G/A]TGCATTAATGCATGTCTAAAAAAATCATAATAATCATTACATGCGTAATT
Associated Phenotype:
Not determined

GWAS

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

  • Parkinson's disease: Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (View Study)

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

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