RGD:15166263 Rat Genome Database

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Variant: RGD:15166263 -  Homo sapiens

RGD ID: 15166263
RS ID: rs35548075
ClinVar ID: CV734799
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAMK4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 110,782,456
GRCh38 5 111,446,758
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001310303.1:p.Asp178Asn
NP_001310304.1:p.Asp178Asn
NP_001735.1:p.Asp178Asn
NM_001323376.2:c.-60G>A
More... 		07/04/2018 5 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CAMK4
Accession:NM_001323377
Location:5UTRS;EXON

Gene Symbol:CAMK4
Accession:NM_001323376
Location:5UTRS;EXON

Gene Symbol:CAMK4
Accession:XM_047417783
Location:5UTRS;EXON

Gene Symbol:CAMK4
Accession:NM_001323375
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKVTVPSCSASSCSSVTASAAPGTASLVPDYWIDGSNRDALSDFFEVESELGRGATSIVYRCKQKGTQKPYALKVLKKT
VDKKIVRTEIGVLLRLSHPNIIKLKEIFETPTEISLVLELVTGGELFDRIVEKGYYSERDAADAVKQILEAVAYLHENGI
VHRDLKPENLLYATPAPNAPLKIADFGLSKIVEHQVLMKTVCGTPGYCAPEILRGCAYGPEVDMWSVGIITYILLCGFEP
FYDERGDQFMFRRILNCEYYFISPWWDEVSLNAKDLVRKLIVLDPKKRLTTFQALQHPWVTGKAANFVHMDTAQKKLQEF
NARRKLKAAVKAVVASSRLGSASSSHGSIQESHKASRDPSPIQDGNEDMKAIPEGEKIQGDGAQAAVKGAQAELMKVQAL
EKVKGADINAEEAPKMVPKAVEDGIKVADLELEEGLAEEKLKTVEEAAAPREGQGSSAVGFEVPQQDVILPEY*

Gene Symbol:CAMK4
Accession:NM_001323374
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKVTVPSCSASSCSSVTASAAPGTASLVPDYWIDGSNRDALSDFFEVESELGRGATSIVYRCKQKGTQKPYALKVLKKT
VDKKIVRTEIGVLLRLSHPNIIKLKEIFETPTEISLVLELVTGGELFDRIVEKGYYSERDAADAVKQILEAVAYLHENGI
VHRDLKPENLLYATPAPNAPLKIADFGLSKIVEHQVLMKTVCGTPGYCAPEILRGCAYGPEVDMWSVGIITYILLCGFEP
FYDERGDQFMFRRILNCEYYFISPWWDEVSLNAKDLVRKLIVLDPKKRLTTFQALQHPWVTGKAANFVHMDTAQKKLQEF
NARRKLKAAVKAVVASSRLGSASSSHGSIQESHKASRDPSPIQDGNEDMKAIPEGEKIQGDGAQAAVKGAQAELMKVQAL
EKVKGADINAEEAPKMVPKAVEDGIKVADLELEEGLAEEKLKTVEEAAAPREGQGSSAVGFEVPQQDVILPEY*

Gene Symbol:CAMK4
Accession:NM_001744
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLKVTVPSCSASSCSSVTASAAPGTASLVPDYWIDGSNRDALSDFFEVESELGRGATSIVYRCKQKGTQKPYALKVLKKT
VDKKIVRTEIGVLLRLSHPNIIKLKEIFETPTEISLVLELVTGGELFDRIVEKGYYSERDAADAVKQILEAVAYLHENGI
VHRDLKPENLLYATPAPNAPLKIADFGLSKIVEHQVLMKTVCGTPGYCAPEILRGCAYGPEVDMWSVGIITYILLCGFEP
FYDERGDQFMFRRILNCEYYFISPWWDEVSLNAKDLVRKLIVLDPKKRLTTFQALQHPWVTGKAANFVHMDTAQKKLQEF
NARRKLKAAVKAVVASSRLGSASSSHGSIQESHKASRDPSPIQDGNEDMKAIPEGEKIQGDGAQAAVKGAQAELMKVQAL
EKVKGADINAEEAPKMVPKAVEDGIKVADLELEEGLAEEKLKTVEEAAAPREGQGSSAVGFEVPQQDVILPEY*

Gene Symbol:CAMK4
Accession:XR_948303
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000904404 CLINVAR
dbSNP (RS) rs35548075 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CAMK4 CLINVAR
OMIM 114080 CLINVAR