RGD:15184946 Rat Genome Database

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Variant: RGD:15184946 -  Homo sapiens

RGD ID: 15184946
RS ID: rs41535248
ClinVar ID: CV698077
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CX3CR1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 39,307,962
GRCh38 3 39,266,471
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001171172.2:c.39G>T
NM_001171171.2:c.39G>T
NM_001171174.1:c.135G>T
NM_001337.4:c.39G>T
More... 		07/16/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CX3CR1
Accession:XM_047447538
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQFPESVTENFDYDDLAEACYIGDIVVFGTVFLSIFYSVIFAIGLVGNLLVVFALTNSKKPKSVTDIYLLNLALSDLLF
VATLPFWTHYLINEKGLHNAMCKFTTAFFFIGFFGSIFFITVISIDRYLAIVLAANSMNNRTVQHGVTISLGVWAAAILV
AAPQFMFTKQKENECLGDYPEVLQEIWPVLRNVETNFLGFLLPLLIMSYCYFRIIQTLFSCKNHKKAKAIKLILLVVIVF
FLFWTPYNVMIFLETLKLYDFFPSCDMRKDLRLALSVTETVAFSHCCLNPLIYAFAGEKFRRYLYHLYGKCLAVLCGRSV
HVDFSSSESQRSRHGSVLSSNFTYHTSDGDALLLL*

Gene Symbol:CX3CR1
Accession:NM_001337
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQFPESVTENFDYDDLAEACYIGDIVVFGTVFLSIFYSVIFAIGLVGNLLVVFALTNSKKPKSVTDIYLLNLALSDLLF
VATLPFWTHYLINEKGLHNAMCKFTTAFFFIGFFGSIFFITVISIDRYLAIVLAANSMNNRTVQHGVTISLGVWAAAILV
AAPQFMFTKQKENECLGDYPEVLQEIWPVLRNVETNFLGFLLPLLIMSYCYFRIIQTLFSCKNHKKAKAIKLILLVVIVF
FLFWTPYNVMIFLETLKLYDFFPSCDMRKDLRLALSVTETVAFSHCCLNPLIYAFAGEKFRRYLYHLYGKCLAVLCGRSV
HVDFSSSESQRSRHGSVLSSNFTYHTSDGDALLLL*

Gene Symbol:CX3CR1
Accession:NM_001171174
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREPLEAFKLADLDFRKSSLASGWRMASGAFTMDQFPESVTENFDYDDLAEACYIGDIVVFGTVFLSIFYSVIFAIGLVG
NLLVVFALTNSKKPKSVTDIYLLNLALSDLLFVATLPFWTHYLINEKGLHNAMCKFTTAFFFIGFFGSIFFITVISIDRY
LAIVLAANSMNNRTVQHGVTISLGVWAAAILVAAPQFMFTKQKENECLGDYPEVLQEIWPVLRNVETNFLGFLLPLLIMS
YCYFRIIQTLFSCKNHKKAKAIKLILLVVIVFFLFWTPYNVMIFLETLKLYDFFPSCDMRKDLRLALSVTETVAFSHCCL
NPLIYAFAGEKFRRYLYHLYGKCLAVLCGRSVHVDFSSSESQRSRHGSVLSSNFTYHTSDGDALLLL*

Gene Symbol:CX3CR1
Accession:NM_001171171
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQFPESVTENFDYDDLAEACYIGDIVVFGTVFLSIFYSVIFAIGLVGNLLVVFALTNSKKPKSVTDIYLLNLALSDLLF
VATLPFWTHYLINEKGLHNAMCKFTTAFFFIGFFGSIFFITVISIDRYLAIVLAANSMNNRTVQHGVTISLGVWAAAILV
AAPQFMFTKQKENECLGDYPEVLQEIWPVLRNVETNFLGFLLPLLIMSYCYFRIIQTLFSCKNHKKAKAIKLILLVVIVF
FLFWTPYNVMIFLETLKLYDFFPSCDMRKDLRLALSVTETVAFSHCCLNPLIYAFAGEKFRRYLYHLYGKCLAVLCGRSV
HVDFSSSESQRSRHGSVLSSNFTYHTSDGDALLLL*

Gene Symbol:CX3CR1
Accession:NM_001171172
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQFPESVTENFDYDDLAEACYIGDIVVFGTVFLSIFYSVIFAIGLVGNLLVVFALTNSKKPKSVTDIYLLNLALSDLLF
VATLPFWTHYLINEKGLHNAMCKFTTAFFFIGFFGSIFFITVISIDRYLAIVLAANSMNNRTVQHGVTISLGVWAAAILV
AAPQFMFTKQKENECLGDYPEVLQEIWPVLRNVETNFLGFLLPLLIMSYCYFRIIQTLFSCKNHKKAKAIKLILLVVIVF
FLFWTPYNVMIFLETLKLYDFFPSCDMRKDLRLALSVTETVAFSHCCLNPLIYAFAGEKFRRYLYHLYGKCLAVLCGRSV
HVDFSSSESQRSRHGSVLSSNFTYHTSDGDALLLL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000952834 CLINVAR
dbSNP (RS) rs41535248 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CX3CR1 CLINVAR
OMIM 601470 CLINVAR