rs763274790 Rat Genome Database

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Variant: rs763274790 -  Homo sapiens

RGD ID: 11588962
RS ID: rs763274790
ClinVar ID: CV287308
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACADL  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 211,089,981
GRCh38 2 210,225,257
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008002.1:g.5235G>T
NC_000002.12:g.210225257C>A
NC_000002.11:g.211089981C>A
NP_001599.1:p.Ala3Ser
More...
01/23/2021 missense variant likely benign|uncertain significance infancy 1-9 / 100 000 ACADL-related condition

Variant Details
Variant Transcripts
Gene Symbol:ACADL
Accession:XM_005246517
Location:5UTRS;EXON

Gene Symbol:ACADL
Accession:NM_001608
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRLLRGSLRVLGGHRAPRQLPAARCSHSGGEERLETPSAKKLTDIGIRRIFSPEHDIFRKSVRKFFQEEVIPHHSEWE
KAGEVSREVWEKAGKQGLLGVNIAEHLGGIGGDLYSAAIVWEEQAYSNCSGPGFSIHSGIVMSYITNHGSEEQIKHFIPQ
MTAGKCIGAIAMTEPGAGSDLQGIKTNAKKDGSDWILNGSKVFISNGSLSDVVIVVAVTNHEAPSPAHGISLFLVENGMK
GFIKGRKLHKMGLKAQDTAELFFEDIRLPASALLGEENKGFYYIMKELPQERLLIADVAISASEFMFEETRNYVKQRKAF
GKTVAHLQTVQHKLAELKTHICVTRAFVDNCLQLHEAKRLDSATACMAKYWASELQNSVAYDCVQLHGGWGYMWEYPIAK
AYVDARVQPIYGGTNEIMKELIAREIVFDK*

Gene Symbol:ACADL
Accession:XM_047444103
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003901878 CLINVAR
dbSNP (RS) rs763274790 CLINVAR
NCBI Gene ACADL CLINVAR
OMIM 609576 CLINVAR