RGD:156326107 Rat Genome Database

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Variant: RGD:156326107 -  Homo sapiens

RGD ID: 156326107
ClinVar ID: CV1985460
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127885245  MC1R  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 89,985,875
GRCh38 16 89,919,467
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002386.4:c.209A>C
NG_134986.1:g.1051A>C
NG_134987.1:g.167A>C
NG_027810.1:g.2459A>C
More... 		10/13/2022 missense variant uncertain significance 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: H to P (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVVATIAKNRNLPSPMYCFICCL
ALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVIDVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPR
ARRAVAAIWVASVVFSTLFIAYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLHKRQRPVHQGFGLKGA
VTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNFNLFLALIICNAIIDPLIYAFHSQELRRTLKEVLTCSW*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002635736 CLINVAR
  RCV002649565 CLINVAR
MedGen C0950123 CLINVAR
  C2751295 CLINVAR
NCBI Gene MC1R CLINVAR
OMIM 155555 CLINVAR
  613099 CLINVAR