LOC570938

Ensembl ID:
ENSDARG00000041515
Human Orthologue:
RASAL1
Human Description:
RAS protein activator like 1 (GAP1 like) [Source:HGNC Symbol;Acc:9873]
Mouse Orthologue:
Rasal1
Mouse Description:
RAS protein activator like 1 (GAP1 like) Gene [Source:MGI Symbol;Acc:MGI:1330842]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa34274 Splice Site, Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa34274
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:
C > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000060865 Splice Site, Nonsense 218 241 8 8
Genomic Location (Zv9):
Chromosome 8 (position 1865018)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 1634750
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTGAGTCAATGACGGGGACTGATGTGTGTGTGTGTGTGTGTGTGTGTGTG[C/T]AGGTGGAGATTCCTCTGTCGTGTCTGCTCAGATCTCCTGTCCTGCAGGGC
Associated Phenotype:
Not determined

GWAS

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

  • Visceral fat: Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (View Study)

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

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