RGD:11623917 Rat Genome Database

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Variant: RGD:11623917 -  Homo sapiens

RGD ID: 11623917
RS ID: rs569735993
ClinVar ID: CV336760
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124903759  LOC127885244  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 89,984,404
GRCh38 16 89,917,996
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.5118G>A
NC_000016.10:g.89917996G>A
NC_000016.9:g.89984404G>A
NG_027810.1:g.988G>A
More... 		01/13/2018 5 prime utr variant uncertain significance Cutaneous malignant melanoma 5
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC124903759
Accession:XM_047435032
Location:3UTRS;EXON

Gene Symbol:LOC124903759
Accession:XM_047435031
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 387
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCVHLYACVPVCVCLCVWVHICVCVCACVCVCTYVCVHTCMHVCLCVWVHICVCVPVCVGAHLCVWVHICVCVRLCGCTF
VCVCACVCACVCGCLCVWGTFVCVCACVWVHICVCASVCVPVCGGAHLCVRLCVGVHICVCACVCGCTFVCVCACVCGCL
CVCGAHLCVCVCLCVGAHLCVCLCVCACVWGCTFVCVCACVWGCTFVCVCACVCGCTFVCVCACVCGCTFVCVCLCVWVH
ICVCVCLCVWVHICVCACVWVHICVCVPVCVCLCVWVHICVCVCLCVWVHICVCVCACVCVAGPGCQTLNKRRKTSVFIL
LVGRWSRNTWMESALQERCLCLWRGPCTDAVFSKEVLGTPWSEPRKMPAVGARAPLHRPCWASGPRPTAVNGLRSTTCDG
WRRERKAPFFPGPQRSPGPGRQETEARTVQRCRNVLGT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000378477 CLINVAR
dbSNP (RS) rs569735993 CLINVAR
MedGen C2751295 CLINVAR
NCBI Gene MC1R CLINVAR
OMIM 155555 CLINVAR
  613099 CLINVAR