RGD:127317139 Rat Genome Database

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Variant: RGD:127317139 -  Homo sapiens

RGD ID: 127317139
RS ID: rs149513190
ClinVar ID: CV1155671
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM20C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 295,867
GRCh38 7 255,901
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020223.4:c.1125C>T
NG_033970.1:g.65537C>T
NC_000007.14:g.255901C>T
NC_000007.13:g.295867C>T
More...
05/04/2021 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FAM20C
Accession:NM_020223
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 375
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMMLVRRFRVLILMVFLVACALHIALDLLPRLERRGARPSGEPGCSCAQPAAEVAAPGWAQVRGRPGEPPAASSAAGDA
GWPNKHTLRILQDFSSDPSSNLSSHSLEKLPPAAEPAERALRGRDPGALRPHDPAHRPLLRDPGPRRSESPPGPGGDASL
LARLFEHPLYRVAVPPLTEEDVLFNVNSDTRLSPKAAENPDWPHAGAEGAEFLSPGEAAVDSYPNWLKFHIGINRYELYS
RHNPAIEALLHDLSSQRITSVAMKSGGTQLKLIMTFQNYGQALFKPMKQTREQETPPDFFYFSDYERHNAEIAAFHLDRI
LDFRRVPPVAGRMVNMTKEIRDVTRDKKLWRTFFISPANNICFYGECSYYCSTEHALCGKPDQIEGSLAAFLPDLSLAKR
KTWRNPWRRSYHKRKKAEWEVDPDYCEEVKQTPPYDSSHRILDVMDMTIFDFLMGNMDRHHYETFEKFGNETFIIHLDNG
RGFGKYSHDELSILVPLQQCCRIRKSTYLRLQLLAKEEYKLSLLMAESLRGDQVAPVLYQPHLEALDRRLRVVLKAVRDC
VERNGLHSVVDDDLDTEHRAASAR*

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

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

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

Gene Symbol:FAM20C
Accession:XM_047420625
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001520914 CLINVAR
dbSNP (RS) rs149513190 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FAM20C CLINVAR
OMIM 611061 CLINVAR