RGD:127313193 Rat Genome Database

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Variant: RGD:127313193 -  Homo sapiens

RGD ID: 127313193
RS ID: rs184956116
ClinVar ID: CV1118580
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 38,002,824
GRCh38 8 38,145,306
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000349.3:c.660C>T
NG_011827.1:g.10777C>T
NC_000008.11:g.38145306G>A
NC_000008.10:g.38002824G>A
More... 		12/31/2019 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:STAR
Accession:NM_000349
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLATFKLCAGSSYRHMRNMKGLRQQAVMAISQELNRRALGGPTPSTWINQVRRRSSLLGSRLEETLYSDQELAYLQQGE
EAMQKALGILSNQEGWKKESQQDNGDKVMSKVVPDVGKVFRLEVVVDQPMERLYEELVERMEAMGEWNPNVKEIKVLQKI
GKDTFITHELAAEAAGNLVGPRDFVSVRCAKRRGSTCVLAGMATDFGNMPEQKGVIRAEHGPTCMVLHPLAGSPSKTKLT
WLLSIDLKGWLPKSIINQVLSQTQVDFANHLRKRLESHPASEARC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001457376 CLINVAR
dbSNP (RS) rs184956116 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene STAR CLINVAR
OMIM 600617 CLINVAR