RGD:8600184 Rat Genome Database

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Variant: RGD:8600184 -  Homo sapiens

RGD ID: 8600184
RS ID: rs121913092
ClinVar ID: CV31407
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGG  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 155,527,922
GRCh38 4 154,606,770
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008834.1:g.10981A>G
NC_000004.12:g.154606770T>C
NC_000004.11:g.155527922T>C
NP_068656.2:p.Gln355Arg
More... 		10/11/2011 missense|missense variant other

Variant Details
Variant Transcripts
Gene Symbol:FGG
Accession:NM_000509
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKT
SEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQ
CQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEG
FGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKYRLTYAYFAGGDAGDAFDGFD
FGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAERDGSGWWMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKT
RWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQAGDV*

Gene Symbol:FGG
Accession:NM_021870
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQTKVDKDLQSLEDILHQVENKT
SEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIMKYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQ
CQEPCKDTVQIHDITGKDCQDIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEG
FGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKYRLTYAYFAGGDAGDAFDGFD
FGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAERDGSGWWMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKT
RWYSMKKTTMKIIPFNRLTIGEGQQHHLGGAKQVRPEHPAETEYDSLYPEDDL*
Variant Samples
Additional References at PubMed
PMID:2738036  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017788 CLINVAR
dbSNP (RS) rs121913092 CLINVAR
NCBI Gene FGG CLINVAR
OMIM 134850 CLINVAR
OMIM Allele 134850.0008 CLINVAR