RGD:15184962 Rat Genome Database

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Variant: RGD:15184962 -  Homo sapiens

RGD ID: 15184962
RS ID: rs370074960
ClinVar ID: CV766263
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GHRHR  LOC129661958  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 31,014,649
GRCh38 7 30,975,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000823.4:c.876G>C
NG_021416.1:g.16014G>C
NC_000007.14:g.30975034G>C
NC_000007.13:g.31014649G>C
More... 		06/28/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GHRHR
Accession:NM_000823
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 292
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPD
FFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCP
RNYVHTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHT
QSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLP
AWRTRAKWTTPSRSAAKVLTSMC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000930931 CLINVAR
dbSNP (RS) rs370074960 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GHRHR CLINVAR
OMIM 139191 CLINVAR