RGD:11542388 Rat Genome Database

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Variant: RGD:11542388 -  Homo sapiens

RGD ID: 11542388
RS ID: rs33932559
ClinVar ID: CV227383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127885245  MC1R  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 89,986,025
GRCh38 16 89,919,617
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.6739T>C
NC_000016.10:g.89919617T>C
NC_000016.9:g.89986025T>C
NP_002377.4:p.Ile120Thr
More... 		03/05/2019 missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance adult 1-9 / 100 000 AllHighlyPenetrant; 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: I to T (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVVATIAKNRNLHSPMYCFICCL
ALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVTDVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPR
ARRAVAAIWVASVVFSTLFIAYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLHKRQRPVHQGFGLKGA
VTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNFNLFLALIICNAIIDPLIYAFHSQELRRTLKEVLTCSW*
Variant Samples
Additional References at PubMed
PMID:14961558   PMID:15221796   PMID:18067130   PMID:21672182   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252453 CLINVAR
  RCV000490361 CLINVAR
dbSNP (RS) rs33932559 CLINVAR
MedGen C2751295 CLINVAR
  CN169374 CLINVAR
NCBI Gene MC1R CLINVAR
OMIM 155555 CLINVAR
  613099 CLINVAR