RGD:13494266 Rat Genome Database

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Variant: RGD:13494266 -  Homo sapiens

RGD ID: 13494266
RS ID: rs758135673
ClinVar ID: CV467230
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127885245  MC1R  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 89,985,768
GRCh38 16 89,919,360
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012026.1:g.6482G>C
NC_000016.10:g.89919360G>C
NC_000016.9:g.89985768G>C
NP_002377.4:p.Arg34=
More... 		04/20/2018 synonymous variant likely benign 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: R to R (synonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVQGSQRRLLGSLNSTPTAIPQLGLAANQTGARCLEVSISDGLFLSLGLVSLVENALVVATIAKNRNLHSPMYCFICCL
ALSDLLVSGSNVLETAVILLLEAGALVARAAVLQQLDNVIDVITCSSMLSSLCFLGAIAVDRYISIFYALRYHSIVTLPR
ARRAVAAIWVASVVFSTLFIAYYDHVAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGIARLHKRQRPVHQGFGLKGA
VTLTILLGIFFLCWGPFFLHLTLIVLCPEHPTCGCIFKNFNLFLALIICNAIIDPLIYAFHSQELRRTLKEVLTCSW*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001452826 CLINVAR
dbSNP (RS) rs758135673 CLINVAR
MedGen C2751295 CLINVAR
NCBI Gene MC1R CLINVAR
OMIM 155555 CLINVAR
  613099 CLINVAR