RGD:15201828 Rat Genome Database

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Variant: RGD:15201828 -  Homo sapiens

RGD ID: 15201828
RS ID: rs200862223
ClinVar ID: CV767093
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR5A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 127,262,948
GRCh38 9 124,500,669
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004959.5:c.291G>A
NG_008176.1:g.11752G>A
NC_000009.12:g.124500669C>T
NC_000009.11:g.127262948C>T
More... 		07/18/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NR5A1
Accession:NM_004959
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKHYTCTESQSCKIDKTQRKRCPFCRFQKCLTVGMRL
EAVRADRMRGGRNKFGPMYKRDRALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGP
LGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFSGGPNVPELILQLLQLEPDEDQV
RARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISIVDWARRCMVFKELEVADQMTLLQNCWSELLVFDHIYRQVQHGKE
GSILLVTGQEVELTTVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKDAQEKANAA
LLDYTLCHYPHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQAKQT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000935774 CLINVAR
dbSNP (RS) rs200862223 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NR5A1 CLINVAR
OMIM 184757 CLINVAR