RGD:12880664 Rat Genome Database

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Variant: RGD:12880664 -  Homo sapiens

RGD ID: 12880664
RS ID: rs201171524
ClinVar ID: CV401957
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127885245  MC1R  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 89,986,498
GRCh38 16 89,920,090
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012026.1:g.7212A>G
NC_000016.10:g.89920090A>G
NC_000016.9:g.89986498A>G
NP_002377.4:p.Lys278Glu
More...
09/17/2020 missense variant conflicting interpretations of pathogenicity|uncertain significance adult 1-9 / 100 000 Cutaneous malignant melanoma 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MC1R
Accession:NM_002386
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVVATIAKNRNLHSPMYCFICCL
ALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVIDVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPR
ARRAVAAIWVASVVFSTLFIAYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLHKRQRPVHQGFGLKGA
VTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFENFNLFLALIICNAIIDPLIYAFHSQELRRTLKEVLTCSW*

Variant Samples
Additional References at PubMed
PMID:15221796   PMID:15998953   PMID:16601669   PMID:16982779   PMID:17434924   PMID:18067130   PMID:18402696   PMID:18983535   PMID:20043015   PMID:24982914   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000456425 CLINVAR
dbSNP (RS) rs201171524 CLINVAR
MedGen C2751295 CLINVAR
NCBI Gene MC1R CLINVAR
OMIM 155555 CLINVAR
  613099 CLINVAR