RGD:127288826 Rat Genome Database

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Variant: RGD:127288826 -  Homo sapiens

RGD ID: 127288826
RS ID: rs2130614489
ClinVar ID: CV1139472
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 38,003,954
GRCh38 8 38,146,436
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.318C>T
NC_000008.10:g.38003954G>A
NP_000340.2:p.Asp106=
NC_000008.11:g.38146436G>A
More... 		02/14/2019 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:STAR
Accession:NM_000349
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 106
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 RCV001495429 CLINVAR
dbSNP (RS) rs2130614489 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene STAR CLINVAR
OMIM 600617 CLINVAR