rs9427397 Rat Genome Database

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Variant: rs9427397 -  Homo sapiens

RGD ID: 12896455
RS ID: rs9427397
ClinVar ID: CV389336
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FCGR2A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 161,476,204
GRCh38 1 161,506,414
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012066.2:g.6000C>T
NC_000001.11:g.161506414C>T
NC_000001.10:g.161476204C>T
p.Gln63X
More... 		03/28/2016 nonsense benign AllHighlyPenetrant
GWAS Catalog Data
GWAS Catalog Study Disease Trait Study Size Risk Allele Risk Allele Frequency P Value P Value MLOG SNP Passing QC Reported Odds Ratio or Beta-coefficient Ontology Accession PubMed
GCST90131438 Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive) 14,551 European ancestry cases, 846,260 European ancestry controls, 3,468 cases, 145,344 controls T 0.1144 2E-8 7.698970004336019 Affymetrix, Illumina [64000000] (imputed) 1.11 rheumatoid arthritis (EFO:0000685)
ACPA-positive rheumatoid arthritis (EFO:0009459)
rheumatoid factor seropositivity measurement (EFO:0007791)
 PMID:35470158

Variant Details
Variant Transcripts
Gene Symbol:FCGR2A
Accession:XM_017000666
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGN
LIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNG
KSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDY
ETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNTNKAFTLFWNTSCQKGKLQVNCQWRLLTSCTAIFPVQLPEGCDLLRE
VIPGRLET*

Gene Symbol:FCGR2A
Accession:XM_017000665
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGN
LIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNG
KSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIY
CRKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNTEIRTP
ADLNGMFWIEESGKWPQFTKSQPDKNQCDFTAQ*

Gene Symbol:FCGR2A
Accession:XM_017000663
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGNL
IPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNGK
SQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIYC
RKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNTNKAFTL
FWNTSCQKGKLQVNCQWRLLTSCTAIFPVQLPEGCDLLREVIPGRLET*

Gene Symbol:FCGR2A
Accession:XM_011509290
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGN
LIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNG
KSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIY
CRKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNRLY*

Gene Symbol:FCGR2A
Accession:XM_011509291
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGN
LIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNG
KSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIY
CRKKRISATWTSNDCHQKETT*

Gene Symbol:FCGR2A
Accession:NM_001375296
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGN
LIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNG
KSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDY
ETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNSNN*

Gene Symbol:FCGR2A
Accession:XM_017000664
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGN
LIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNG
KSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIY
CRKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNTEIRTP
ADLNGMFWIEESGKWPQFTKSQPDKNQCDFTAQ*

Gene Symbol:FCGR2A
Accession:NM_021642
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGNL
IPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNGK
SQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIYC
RKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNSNN*

Gene Symbol:FCGR2A
Accession:NM_001136219
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGN
LIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNG
KSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIY
CRKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNSNN*

Gene Symbol:FCGR2A
Accession:NM_001375297
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGNL
IPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNGK
SQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYE
TADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNSNN*

Gene Symbol:FCGR2A
Accession:XM_047449441
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMETQMSQNVCPRNLWLLQPLTVLLLLASADSQAAAPPKAVLKLEPPWINVLQEDSVTLTC*GARSPESDSIQWFHNGN
LIPTHTQPSYRFKANNNDSGEYTCQTGQTSLSDPVHLTVLSEWLVLQTPHLEFQEGETIMLRCHSWKDKPLVKVTFFQNG
KSQKFSHLDPTFSIPQANHSHSGDYHCTGNIGYTLFSSKPVTITVQVPSMGSSSPMGIIVAVVIATAVAAIVAAVVALIY
CRKKRISANSTDPVKAAQFEPPGRQMIAIRKRQLEETNNDYETADGGYMTLNPRAPTDDDKNIYLTLPPNDHVNTNKAFT
LFWNTSCQKGKLQVNCQWRLLTSCTAIFPVQLPEGCDLLREVIPGRLET*

Gene Symbol:FCGR2A
Accession:XM_024454040
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000455363 CLINVAR
  RCV003972704 CLINVAR
dbSNP (RS) rs9427397 CLINVAR
GWAS Catalog GCST90131438 GWAS Catalog
MedGen CN169374 CLINVAR
NCBI Gene FCGR2A CLINVAR
OMIM 146790 CLINVAR