RGD:28903965 Rat Genome Database

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Variant: RGD:28903965 -  Homo sapiens

RGD ID: 28903965
RS ID: rs1915344558
ClinVar ID: CV879677
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MC4R  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 58,038,928
GRCh38 18 60,371,695
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005912.3:c.655G>T
NG_016441.1:g.6074G>T
NC_000018.10:g.60371695C>A
NC_000018.9:g.58038928C>A
More... 		01/12/2018 missense variant uncertain significance Obesity disorder
Disease Annotations     Click to see Annotation Detail View
obesity  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Obesity  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:MC4R
Accession:NM_005912
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNSTHRGMHTSLHLWNRSSYRLHSNASESLGKGYSDGGCYEQLFVSPEVFVTLGVISLLENILVIVAIAKNKNLHSPMY
FFICSLAVADMLVSVSNGSETIVITLLNSTDTDAQSFTVNIDNVIDSVICSSLLASICSLLSIAVDRYFTIFYALQYHNI
MTVKRVGIIISCIWAACTVSGILFIIYSDSSAVIICLITMFFTMLALMASLYVHMFLMSRLHIKRIAVLPGTGAIRQGAN
MKGAITLTILIGVFVVCWAPFFLHLIFYISCPQNPYCVCFMSHFNLYLILIMCNSIIDPLIYALRSQELRKTFKEIICCY
PLGGLCDLSSRY*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001125887 CLINVAR
dbSNP (RS) rs1915344558 CLINVAR
MedGen C0028754 CLINVAR
NCBI Gene MC4R CLINVAR
OMIM 155541 CLINVAR
SNOMED CT 414916001 CLINVAR