RGD:126912509 Rat Genome Database

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Variant: RGD:126912509 -  Homo sapiens

RGD ID: 126912509
RS ID: rs187691945
ClinVar ID: CV1037772
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  LOC127408037  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 195,579
GRCh38 7 195,579
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_064608.2:p.Glu211Lys
NM_020223.4:c.631G>A
NC_000007.13:g.195579G>A
NG_033970.1:g.7611G>A
More...
missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FAM20C
Accession:XM_047420625
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAKFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVDFTGTSCMSDPLSGWWGVEDEFSLNEICCLCGPDSPRKRHTRTVPDPEEERALQSRARQ
PGRVERRGLHWEGLRTFHRVCRAAYLPGGSVLAGRGMREPCTPARAFGRSSTQVRKSPVPLSV*

Gene Symbol:FAM20C
Accession:NM_020223
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAKFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRI
LDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKR
KTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNG
RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDC
VERNGLHSVVDDDLDTEHRAASAR*

Gene Symbol:FAM20C
Accession:XR_001744837
Location:EXON;NON-CODING

Gene Symbol:FAM20C
Accession:XR_007060116
Location:EXON;NON-CODING

Gene Symbol:FAM20C
Accession:XR_007060117
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001356573 CLINVAR
dbSNP (RS) rs187691945 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 611061 CLINVAR