rs587780885 Rat Genome Database

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Variant: rs587780885 -  Homo sapiens

RGD ID: 8690488
RS ID: rs587780885
ClinVar ID: CV140439
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFC1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 131,350,534
GRCh38 2 130,592,961
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_008148.1:g.11549C>A
NC_000002.12:g.130592961G>T
NC_000002.11:g.131350534G>T
NM_032545.2:c.588C>A
More... 		01/16/2013 missense variant|synonymous variant benign|likely benign AllHighlyPenetrant; none provided

Gene Symbol:CFC1
Accession:NM_032545
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 196
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAF
GEGASARPRCCRNGGTCVLGSFCVCPAHFTGRYCEHDQRRSECGALEHGAWTLRACHLCRCIFGALHCLPLQTPDRCDPK
DFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL*

Gene Symbol:CFC1
Accession:NM_001270421
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAF
GEDPKDFLASHAHGPSAGGAPSLLLLLPCALLHRLLRPDAPAHPRSLVPSVLQRERRPCGRPGLGHRL*

Gene Symbol:CFC1
Accession:NM_001270420
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTWRHHVRLLFTVSLALQIINLGNSYQREKHNGGREEVTKVATQKHRQSPLNWTSSHFGEVTGSAEGWGPEEPLPYSRAF
GEVNAAPWSTEPGPSAPATSAGASSGPCTASPSRRLTAVTRKTSWPPTLTGRAPGARPACYSCCPAHSCTASCARMRQRT
LGPWSLPSSSGSGAPAEGRDLGIAFNFLCCK*

Gene Symbol:CFC1
Accession:XM_011511486
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV000124256 CLINVAR
  RCV001701673 CLINVAR
dbSNP (RS) rs587780885 CLINVAR
MedGen CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene CFC1 CLINVAR
OMIM 605194 CLINVAR