RGD:28910537 Rat Genome Database

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Variant: RGD:28910537 -  Homo sapiens

RGD ID: 28910537
RS ID: rs765604622
ClinVar ID: CV869380
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADS  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 121,175,675
GRCh38 12 120,737,872
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001302554.2:c.473-177G>T
NM_000017.4:c.508G>T
NG_007991.1:g.17105G>T
NC_000012.12:g.120737872G>T
More... 		04/27/2017 intron variant uncertain significance ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency; SCAD DEFICIENCY, MILD
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACADS
Accession:NM_000017
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEHLFPAAQVKKMGGLGLL
AMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGNG
SDAGAASTTSRAEGDSWVLNGTKAWITNAWEASAAVVFASTDRALQNKGISAFLVPMPTPGLTLGKKEDKLGIRGSSTAN
LIFEDCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALA
LESARLLTWRAAMLKDNKKPFIKEAAMAKLAASEAATAISHQAIQILGGMGYVTEMPAERHYRDARITEIYEGTSEIQRL
VIAGHLLRSYRS*

Gene Symbol:ACADS
Accession:NM_001302554
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001109262 CLINVAR
dbSNP (RS) rs765604622 CLINVAR
MedGen C0342783 CLINVAR
NCBI Gene ACADS CLINVAR
OMIM 201470 CLINVAR
  606885 CLINVAR
SNOMED CT 124166007 CLINVAR