RGD:28910536 Rat Genome Database

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Variant: RGD:28910536 -  Homo sapiens

RGD ID: 28910536
RS ID: rs1022406482
ClinVar ID: CV869379
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 121,175,664
GRCh38 12 120,737,861
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.473-188C>T
NM_000017.4:c.497C>T
NG_007991.1:g.17094C>T
NC_000012.12:g.120737861C>T
More... 		01/13/2018 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 V (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAALLARASGPARRALCPRAWRQLHTIYQSVELPETHQMLLQTCRDFAEKELFPIAAQVDKEHLFPAAQVKKMGGLGLL
AMDVPEELGGAGLDYLAYAIAMEEISRGCASTGVIMSVNNSLYLGPILKFGSKEQKQAWVTPFTSGDKIGCFALSEPGNG
SDAGAVSTTARAEGDSWVLNGTKAWITNAWEASAAVVFASTDRALQNKGISAFLVPMPTPGLTLGKKEDKLGIRGSSTAN
LIFEDCRIPKDSILGEPGMGFKIAMQTLDMGRIGIASQALGIAQTALDCAVNYAENRMAFGAPLTKLQVIQFKLADMALA
LESARLLTWRAAMLKDNKKPFIKEAAMAKLAASEAATAISHQAIQILGGMGYVTEMPAERHYRDARITEIYEGTSEIQRL
VIAGHLLRSYRS*

Gene Symbol:ACADS
Accession:NM_001302554
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001109261 CLINVAR
dbSNP (RS) rs1022406482 CLINVAR
MedGen C0342783 CLINVAR
NCBI Gene ACADS CLINVAR
OMIM 201470 CLINVAR
  606885 CLINVAR
SNOMED CT 124166007 CLINVAR