RGD:13488876 Rat Genome Database

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Variant: RGD:13488876 -  Homo sapiens

RGD ID: 13488876
RS ID: rs1186379773
ClinVar ID: CV457951
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARFGEF1-DT  CPA6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 68,346,453
GRCh38 8 67,434,218
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020361.5:c.861T>C
NG_027682.1:g.317168T>C
NC_000008.11:g.67434218A>G
NC_000008.10:g.68346453A>G
More... 		06/01/2018 synonymous variant likely benign CONVULSIONS, FAMILIAL FEBRILE, 11
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CPA6
Accession:NM_020361
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKCLGKRRGQAAAFLPLCWLFLKILQPGHSHLYNNRYAGDKVIRFIPKTEEEAYALKKISYQLKVDLWQPSSISYVSEGT
VTDVHIPQNGSRALLAFLQEANIQYKVLIEDLQKTLEKGSSLHTQRNRRSLSGYNYEVYHSLEEIQNWMHHLNKTHSGLI
HMFSIGRSYEGRSLFILKLGRRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYKSDPAMRKMLNHLYFYIMPVFNV
DGYHFSWTNDRFWRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHPCDDTYCGPFPESEPEVKAVANFLRKHRKHIRAY
LSFHAYAQMLLYPYSYKYATIPNFRCVESAAYKAVNALQSVYGVRYRYGPASTTLYVSSGSSMDWAYKNGIPYAFAFELR
DTGYFGFLLPEMLIKPTCTETMLAVKNITMHLLKKCP*

Gene Symbol:CPA6
Accession:XM_017013646
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHHLNKTHSGLIHMFSIGRSYEGRSLFILKLGRRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYKSDPAMRKMLN
HLYFYIMPVFNVDGYHFSWTNDRFWRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHPCDDTYCGPFPESEPEVKAVAN
FLRKHRKHIRAYLSFHAYAQMLLYPYSYKYATIPNFRCVESAAYKAVNALQSVYGVRYRYGPASTTLYVSSGSSMDWAYK
NGIPYAFAFELRDTGYFGFLLPEMLIKPTCTETMLAVKNITMHLLKKCP*

Gene Symbol:CPA6
Accession:XM_017013647
Location:INTRON

Gene Symbol:ARFGEF1-DT
Accession:NR_136224
Location:INTRON;NON-CODING

Gene Symbol:ARFGEF1-DT
Accession:NR_136223
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000555052 CLINVAR
dbSNP (RS) rs1186379773 CLINVAR
MedGen C3280734 CLINVAR
NCBI Gene 102724708 CLINVAR
  CPA6 CLINVAR
OMIM 609562 CLINVAR
  614418 CLINVAR