RGD:15187839 Rat Genome Database

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Variant: RGD:15187839 -  Homo sapiens

RGD ID: 15187839
RS ID: rs144058777
ClinVar ID: CV729730
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPXCR1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 88,008,720
GRCh38 X 88,753,719
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001171700.2:p.Ser102Tyr
NM_001184771.2:c.305C>A
NC_000023.10:g.88008720C>A
NM_033048.6:c.305C>A
More... 		06/18/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CPXCR1
Accession:NM_001184771
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSYPTKEGSDTAGNAHKNSENEPPNDCSTDIESPSADPNMIYQVETNPINREPGTATSQEDVVPQAAENSELETEIQKDQ
REEDLKEELLLLQTPIPRKLVYHKPLNDRSRSHSGKVEMKANNFPINHKTRFRLSTSWRVPFINSHEIRSMILHLLCDRY
FSQAAGCQNTMWVKRKYIACLYHPNSFTHHERAITFRRPSRVHYYRPLTERMTSGKFCKSTDTKGKCRFRAIVRSVLFVS
QIQIESIFNIKGFVDILTYIHTMNVMITNTNNGWKYFCPICGRLFNTYSELRQHSCSSSGN*

Gene Symbol:CPXCR1
Accession:NM_033048
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSYPTKEGSDTAGNAHKNSENEPPNDCSTDIESPSADPNMIYQVETNPINREPGTATSQEDVVPQAAENSELETEIQKDQ
REEDLKEELLLLQTPIPRKLVYHKPLNDRSRSHSGKVEMKANNFPINHKTRFRLSTSWRVPFINSHEIRSMILHLLCDRY
FSQAAGCQNTMWVKRKYIACLYHPNSFTHHERAITFRRPSRVHYYRPLTERMTSGKFCKSTDTKGKCRFRAIVRSVLFVS
QIQIESIFNIKGFVDILTYIHTMNVMITNTNNGWKYFCPICGRLFNTYSELRQHSCSSSGN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000887365 CLINVAR
dbSNP (RS) rs144058777 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CPXCR1 CLINVAR
OMIM 301055 CLINVAR