RGD:13622516 Rat Genome Database

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Variant: RGD:13622516 -  Homo sapiens

RGD ID: 13622516
RS ID: rs781369203
ClinVar ID: CV524288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARFGEF1-DT  CPA6  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 68,396,084
GRCh38 8 67,483,849
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027682.1:g.267537T>C
NC_000008.11:g.67483849A>G
NC_000008.10:g.68396084A>G
NP_065094.3:p.Trp253Arg
More... 		10/12/2017 missense variant uncertain significance 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: W to R (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKCLGKRRGQAAAFLPLCWLFLKILQPGHSHLYNNRYAGDKVIRFIPKTEEEAYALKKISYQLKVDLWQPSSISYVSEGT
VTDVHIPQNGSRALLAFLQEANIQYKVLIEDLQKTLEKGSSLHTQRNRRSLSGYNYEVYHSLEEIQNWMHHLNKTHSGLI
HMFSIGRSYEGRSLFILKLGRRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYKSDPAMRKMLNHLYFYIMPVFNV
DGYHFSWTNDRFRRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHPCDDTYCGPFPESEPEVKAVANFLRKHRKHIRAY
LSFHAYAQMLLYPYSYKYATIPNFRCVESAAYKAVNALQSVYGVRYRYGPASTTLYVSSGSSMDWAYKNGIPYAFAFELR
DTGYFGFLLPEMLIKPTCTETMLAVKNITMHLLKKCP*

Gene Symbol:CPA6
Accession:XM_017013646
Location:EXON
Amino Acid Prediction: W to R (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHHLNKTHSGLIHMFSIGRSYEGRSLFILKLGRRSRLKRAVWIDCGIHAREWIGPAFCQWFVKEALLTYKSDPAMRKMLN
HLYFYIMPVFNVDGYHFSWTNDRFRRKTRSRNSRFRCRGVDANRNWKVKWCDEGASMHPCDDTYCGPFPESEPEVKAVAN
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 RCV000649883 CLINVAR
dbSNP (RS) rs781369203 CLINVAR
MedGen C3280734 CLINVAR
NCBI Gene 102724708 CLINVAR
  CPA6 CLINVAR
OMIM 609562 CLINVAR
  614418 CLINVAR