RGD:126910993 Rat Genome Database

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Variant: RGD:126910993 -  Homo sapiens

RGD ID: 126910993
RS ID: rs1176554055
ClinVar ID: CV1037338
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHSR  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 172,165,471
GRCh38 3 172,447,681
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_004113.1:p.Gly245Ser
NP_940799.1:p.Gly245Ser
NM_198407.2:c.733G>A
NG_021159.1:g.5776G>A
More... 		missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GHSR
Accession:NM_198407
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNATPSEEPGFNLTLADLDWDASPGNDSLGDELLQLFPAPLLAGVTATCVALFVVGIAGNLLTMLVVSRFRELRTTTNL
YLSSMAFSDLLIFLCMPLDLVRLWQYRPWNFGDLLCKLFQFVSESCTYATVLTITALSVERYFAICFPLRAKVVVTKGRV
KLVIFVIWAVAFCSAGPIFVLVGVEHENGTDPWDTNECRPTEFAVRSGLLTVMVWVSSIFFFLPVFCLTVLYSLIGRKLW
RRRRSDAVVGASLRDQNHKQTVKMLAVVVFAFILCWLPFHVGRYLFSKSFEPGSLEIAQISQYCNLVSFVLFYLSAAINP
ILYNIMSKKYRVAVFRLLGFEPFSQRKLSTLKDESSRAWTESSINT*

Gene Symbol:GHSR
Accession:NM_004122
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWNATPSEEPGFNLTLADLDWDASPGNDSLGDELLQLFPAPLLAGVTATCVALFVVGIAGNLLTMLVVSRFRELRTTTNL
YLSSMAFSDLLIFLCMPLDLVRLWQYRPWNFGDLLCKLFQFVSESCTYATVLTITALSVERYFAICFPLRAKVVVTKGRV
KLVIFVIWAVAFCSAGPIFVLVGVEHENGTDPWDTNECRPTEFAVRSGLLTVMVWVSSIFFFLPVFCLTVLYSLIGRKLW
RRRRSDAVVGASLRDQNHKQTVKMLGGSQRALRLSLAGPILSLCLLPSL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001354890 CLINVAR
dbSNP (RS) rs1176554055 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GHSR CLINVAR
OMIM 601898 CLINVAR