RGD:8626875 Rat Genome Database

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Variant: RGD:8626875 -  Homo sapiens

RGD ID: 8626875
ClinVar ID: CV82019
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP2C18  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 96,484,144
GRCh38 10 94,724,387
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000772.2:c.1003C>T
NM_001128925.1:c.826C>T
NG_008373.1:g.45894C>T
NC_000010.11:g.94724387C>T
More... 		missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:CYP2C18
Accession:NM_001128925
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQLDVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGY
EAVKEALIDHGEEFSGRGSFPVAEKVNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTN
ASPCDPTFILGCAPCNVICSVIFHDRFDYKDQRFLNLMEKFNENLRILSSPWIQEKHNQQSEFTVESLIATVTDMFGAGT
ETTSTTLRYGLLLLLKYPEVTAKVQEEIECVVGRNWSPCMQDRSHMPYTDAVVHEIQRYIDLLPTNLPHAVTCDVKFKNY
LIPKGTTIITSLTSVLHNDKEFPNPEMFDPGHFLDKSGNFKKSDYFMPFSAGKRMCMGEGLARMELFLFLTTILQNFNLK
SQVDPKDIDITPIANAFGRVPPLYQLCFIPV*

Gene Symbol:CYP2C18
Accession:NM_000772
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 335
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPAVALVLCLSCLFLLSLWRQSSGRGRLPSGPTPLPIIGNILQLDVKDMSKSLTNFSKVYGPVFTVYFGLKPIVVLHGY
EAVKEALIDHGEEFSGRGSFPVAEKVNKGLGILFSNGKRWKEIRRFCLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTN
ASPCDPTFILGCAPCNVICSVIFHDRFDYKDQRFLNLMEKFNENLRILSSPWIQVCNNFPALIDYLPGSHNKIAENFAYI
KSYVLERIKEHQESLDMNSARDFIDCFLIKMEQEKHNQQSEFTVESLIATVTDMFGAGTETTSTTLRYGLLLLLKYPEVT
AKVQEEIECVVGRNWSPCMQDRSHMPYTDAVVHEIQRYIDLLPTNLPHAVTCDVKFKNYLIPKGTTIITSLTSVLHNDKE
FPNPEMFDPGHFLDKSGNFKKSDYFMPFSAGKRMCMGEGLARMELFLFLTTILQNFNLKSQVDPKDIDITPIANAFGRVP
PLYQLCFIPV*
Variant Samples