RGD:15152082 Rat Genome Database

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Variant: RGD:15152082 -  Homo sapiens

RGD ID: 15152082
RS ID: rs113848396
ClinVar ID: CV738871
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLEC4C  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 7,894,080
GRCh38 12 7,741,484
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_130441.2:c.172T>G
NP_987099.1:p.Leu27Val
NP_001358319.1:p.Leu58Val
NP_569708.1:p.Leu58Val
More... 		07/23/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CLEC4C
Accession:XM_024448873
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPEEEPQDREKGLWWFQLKVWSMAVVSILLLSVCFTVSSVVPHNFMYSKTVKRLSKVREYQQYHPSLTCVMEGKDIEDW
SCCPTPWTSFQSSCYFISTGMQSWTKSQKNCSVMGADLVVINTREEQDFIIQNLKRNSSYFLGLSDPGGRRHWQWVDQTP
YNENVTFWHSGEPNNLDERCAIINFRSSEEWGWNDIHCHVPQKSICKMKKIYI*

Gene Symbol:CLEC4C
Accession:NM_001371390
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPEEEPQDREKGLWWFQLKVWSMAVVSILLLSVCFTVSSVVPHNFMYSKTVKRLSKVREYQQYHPSLTCVMEGKDIEDW
SCCPTPWTSFQSSCYFISTGMQSWTKSQKNCSVMGADLVVINTREEQDFIIQNLKRNSSYFLGLSDPGGRRHWQWVDQTP
YNENVTFWHSGEPNNLDERCAIINFRSSEEWGWNDIHCHVPQKSICKMKKIYI*

Gene Symbol:CLEC4C
Accession:NM_130441
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPEEEPQDREKGLWWFQLKVWSMAVVSILLLSVCFTVSSVVPHNFMYSKTVKRLSKVREYQQYHPSLTCVMEGKDIEDW
SCCPTPWTSFQSSCYFISTGMQSWTKSQKNCSVMGADLVVINTREEQDFIIQNLKRNSSYFLGLSDPGGRRHWQWVDQTP
YNENVTFWHSGEPNNLDERCAIINFRSSEEWGWNDIHCHVPQKSICKMKKIYI*

Gene Symbol:CLEC4C
Accession:NM_203503
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPEEEPQDRVPHNFMYSKTVKRLSKVREYQQYHPSLTCVMEGKDIEDWSCCPTPWTSFQSSCYFISTGMQSWTKSQKNC
SVMGADLVVINTREEQDFIIQNLKRNSSYFLGLSDPGGRRHWQWVDQTPYNENVTFWHSGEPNNLDERCAIINFRSSEEW
GWNDIHCHVPQKSICKMKKIYI*

Gene Symbol:CLEC4C
Accession:NM_001371391
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000901493 CLINVAR
dbSNP (RS) rs113848396 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CLEC4C CLINVAR
OMIM 606677 CLINVAR