RGD:15148605 Rat Genome Database

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Variant: RGD:15148605 -  Homo sapiens

RGD ID: 15148605
RS ID: rs28417880
ClinVar ID: CV717310
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNB1L  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 19,799,859
GRCh38 22 19,812,336
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_053004.3:c.366C>G
NC_000022.11:g.19812336G>C
NC_000022.10:g.19799859G>C
NM_053004.2:c.366C>G
More... 		01/03/2019 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GNB1L
Accession:NM_053004
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTAPCPPPPPDPQFVLRGTQSPVHALHFCEGAQAQGRPLLFSGSQSGLVHIWSLQTRRAVTTLDGHGGQCVTWLQTLPQG
RQLLSQGRDLKLCLWDLAEGRSAVVDSVCLESVGFCRSSILAGGQPRWTLAVPGRGSDEVQILEMPSKTSVCALKPKADA
KLGMPMCLRLWQADCSSRPLLLAGYEDGSVVLWDVSEQKVCSRIACHEEPVMDLDFDSQKARGISGSAGKALAVWSLDWQ
QALQVRGTHELTNPGIAEVTIRPDRKILATAGWDHRIRVFHWRTMQPLAVLAFHSAAVQCVAFTADGLLAAGSKDQRISL
WSLYPRA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000967580 CLINVAR
dbSNP (RS) rs28417880 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GNB1L CLINVAR
OMIM 610778 CLINVAR