RGD:152147960 Rat Genome Database

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Variant: RGD:152147960 -  Homo sapiens

RGD ID: 152147960
RS ID: rs141742759
ClinVar ID: CV1623739
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MC4R  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 58,038,947
GRCh38 18 60,371,714
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1346t1:c.636T>C
NM_005912.3:c.636T>C
LRG_1346:g.6055T>C
NG_016441.1:g.6055T>C
More... 		10/27/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MC4R
Accession:NM_005912
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNSTHRGMHTSLHLWNRSSYRLHSNASESLGKGYSDGGCYEQLFVSPEVFVTLGVISLLENILVIVAIAKNKNLHSPMY
FFICSLAVADMLVSVSNGSETIVITLLNSTDTDAQSFTVNIDNVIDSVICSSLLASICSLLSIAVDRYFTIFYALQYHNI
MTVKRVGIIISCIWAACTVSGILFIIYSDSSAVIICLITMFFTMLALMASLYVHMFLMARLHIKRIAVLPGTGAIRQGAN
MKGAITLTILIGVFVVCWAPFFLHLIFYISCPQNPYCVCFMSHFNLYLILIMCNSIIDPLIYALRSQELRKTFKEIICCY
PLGGLCDLSSRY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002157725 CLINVAR
dbSNP (RS) rs141742759 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MC4R CLINVAR
OMIM 155541 CLINVAR