RGD:11624551 Rat Genome Database

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Variant: RGD:11624551 -  Homo sapiens

RGD ID: 11624551
RS ID: rs555058897
ClinVar ID: CV336774
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124903759  LOC127885245  MC1R  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 89,985,293
GRCh38 16 89,918,885
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.6007G>A
NC_000016.10:g.89918885G>A
NC_000016.9:g.89985293G>A
NG_027810.1:g.1877G>A
More... 		01/12/2018 5 prime utr variant benign|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:5UTRS;EXON

Gene Symbol:LOC124903759
Accession:XM_047435031
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 416
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVHLYACVPVCVCLCVWVHICVCVCACVCVCTYVCVHTCMHVCLCVWVHICVCVPVCVGAHLCVWVHICVCVRLCGCTF
VCVCACVCACVCGCLCVWGTFVCVCACVWVHICVCASVCVPVCGGAHLCVRLCVGVHICVCACVCGCTFVCVCACVCGCL
CVCGAHLCVCVCLCVGAHLCVCLCVCACVWGCTFVCVCACVWGCTFVCVCACVCGCTFVCVCACVCGCTFVCVCLCVWVH
ICVCVCLCVWVHICVCACVWVHICVCVPVCVCLCVWVHICVCVCLCVWVHICVCVCACVCVAGPGCQTLNKRRKTSVFIL
LVGRWSRNTWMESALQERCLCLWRGPCTDAVFSKEVLGTPWSEPRKMPAVGARAPLHRPCWASGPRPTAVNGLRSTTCDG
WRRERKAPFFPGPQRNPGPGRQETEARTVQRCRNVLGT*

Gene Symbol:LOC124903759
Accession:XM_047435032
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000387626 CLINVAR
dbSNP (RS) rs555058897 CLINVAR
MedGen C2751295 CLINVAR
NCBI Gene MC1R CLINVAR
OMIM 155555 CLINVAR
  613099 CLINVAR