RGD:15153340 Rat Genome Database

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Variant: RGD:15153340 -  Homo sapiens

RGD ID: 15153340
RS ID: rs144720427
ClinVar ID: CV697932
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHSR  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 172,163,032
GRCh38 3 172,445,242
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198407.2:c.1020C>T
NG_021159.1:g.8215C>T
NC_000003.12:g.172445242G>A
NC_000003.11:g.172163032G>A
More... 		10/10/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GHSR
Accession:NM_198407
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 340
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNATPSEEPGFNLTLADLDWDASPGNDSLGDELLQLFPAPLLAGVTATCVALFVVGIAGNLLTMLVVSRFRELRTTTNL
YLSSMAFSDLLIFLCMPLDLVRLWQYRPWNFGDLLCKLFQFVSESCTYATVLTITALSVERYFAICFPLRAKVVVTKGRV
KLVIFVIWAVAFCSAGPIFVLVGVEHENGTDPWDTNECRPTEFAVRSGLLTVMVWVSSIFFFLPVFCLTVLYSLIGRKLW
RRRRGDAVVGASLRDQNHKQTVKMLAVVVFAFILCWLPFHVGRYLFSKSFEPGSLEIAQISQYCNLVSFVLFYLSAAINP
ILYNIMSKKYRVAVFRLLGFEPFSQRKLSTLKDESSRAWTESSINT*

Gene Symbol:GHSR
Accession:NM_004122
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000946062 CLINVAR
dbSNP (RS) rs144720427 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GHSR CLINVAR
OMIM 601898 CLINVAR