RGD:8631119 Rat Genome Database

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Variant: RGD:8631119 -  Homo sapiens

RGD ID: 8631119
ClinVar ID: CV86275
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP96  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 186,361,710
GRCh38 4 185,440,556
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001114357.1:c.551A>G
NC_000004.12:g.185440556A>G
NC_000004.11:g.186361710A>G
NM_152775.2:c.*309+d4637T>C
More... 		missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:CFAP96
Accession:XM_047415721
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHNLIMWLRKLLWNNRWSSPIFQRTVKTSRKIQGTWKEFIHKPGKERNWIWKANEERHRLLKGAPFKLNLHPRDYFDAN
PYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPGGMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVES
IMTLNVRRALNSKNYKTSSVPSY*

Gene Symbol:CFAP96
Accession:NM_001114357
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAEGGKTDMERIGLFSEMEYITVGDKYVSQFNRPFNEAASKNKQMLPGGSKEMSDLQAGYFDPHFVRIFEGEGYINLNQ
VRRRDMVEAAKKNLGKAFLPSNGEKKPCGLGSYYGTIGGPVPFFSAQSKPREKYKAPGKNLYTNPGKKGTGYGYANITIG
KQFSHSADFYDAAKLKYKKANEERHRLLKGAPFKLNLHPRDYFDANPYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPG
GMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVESIMTLNVRRALNSKNYKTSSVPSY*

Gene Symbol:CFAP96
Accession:XM_017008240
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAEGGKTDMERIGLFSEMEYITVGDKYVSQFNRPFNEAASKNKQMLPGGSKEMSDLQAGYFDPHFVRIFEGEGYINLNQ
VRRRDMVEAAKKNLGKAFLPSNGEKKPCGLGSYYGTIGGPVPFFSAQSKPREKYKAPGKNLYTNPGKKGTGYGYANITIG
KQFSHSADFYDAAKLKYKKANEERHRLLKGAPFKLNLHPRDYFDANPYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPG
GMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVESIMTLNVRRALNSKNYKTSSVPSY*

Gene Symbol:CFAP96
Accession:XM_047415722
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAEGGKTDMERIGLFSEMEYITVGDKYVSQFNRPFNEAASKNKQMLPGGSKEMSDLQAGYFDPHFVRIFEGEGYINLNQ
VRRRDMVEAAKKNLGKAFLPSNGEKKPCGLGSYYGTIGGPVPFFSAQSKPREKYKAPGKNLYTNPGKKGTGYGKRMKSAI
VYLKEHHLS*

Gene Symbol:CFAP96
Accession:XM_047415718
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAEGGKTDMERIGLFSEMEYITVGDKYVSQFNRPFNEAASKNKQMLPGGSKEMSDLQAGYFDPHFVRIFEGEGYINLNQ
VRRRDMVEAAKKNLGKAFLPSNGEKKPCGLGSYYGTIGGPVPFFSAQSKPREKYKAPGKNLYTNPGKKGTGYGYANITIG
KQFSHSADFYDAAKLKYKKANEERHRLLKGAPFKLNLHPRDYFDANPYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPG
GMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVESIMTLNVRRALNSKNYKTSSVPSY*

Gene Symbol:CFAP96
Accession:XM_017008238
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAEGGKTDMERIGLFSEMEYITVGDKYVSQFNRPFNEAASKNKQMLPGGSKEMSDLQAGYFDPHFVRIFEGEGYINLNQ
VRRRDMVEAAKKNLGKAFLPSNGEKKPCGLGSYYGTIGGPVPFFSAQSKPREKYKAPGKNLYTNPGKKGTGYGYANITIG
KQFSHSADFYDAAKLKYKKANEERHRLLKGAPFKLNLHPRDYFDANPYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPG
GMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVESIMTLNVRRALNSKNYKTSSVPSY*

Gene Symbol:CFAP96
Accession:XM_047415719
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAEGGKTDMERIGLFSEMEYITVGDKYVSQFNRPFNEAASKNKQMLPGGSKEMSDLQAGYFDPHFVRIFEGEGYINLNQ
VRRRDMVEAAKKNLGKAFLPSNGEKKPCGLGSYYGTIGGPVPFFSAQSKPREKYKAPGKNLYTNPGKKGTGYGYANITIG
KQFSHSADFYDAAKLKYKKANEERHRLLKGAPFKLNLHPRDYFDANPYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPG
GMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVESIMTLNVRRALNSKNYKTSSVPSY*

Gene Symbol:CFAP96
Accession:XM_011531989
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAEGGKTDMERIGLFSEMEYITVGDKYVSQFNRPFNEAASKNKQMLPGGSKEMSDLQAGYFDPHFVRIFEGEGYINLNQ
VRRRDMVEAAKKNLGKAFLPSNGEKKPCGLGSYYGTIGGPVPFFSAQSKPREKYKAPGKNLYTNPGKKGTGYGYANITIG
KQFSHSADFYDAAKLKYKKANEERHRLLKGAPFKLNLHPRDYFDANPYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPG
GMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVESIMTLNVRRALNSKNYKTSSVPSY*

Gene Symbol:CFAP96
Accession:XM_047415720
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHNLIMWLRKLLWNNRWSSPIFQRTVKTSRKIQGTWKEFIHKPGKERNWIWKANEERHRLLKGAPFKLNLHPRDYFDAN
PYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPGGMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVES
IMTLNVRRALNSKNYKTSSVPSY*

Gene Symbol:CFAP96
Accession:XM_017008239
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAEGGKTDMERIGLFSEMEYITVGDKYVSQFNRPFNEAASKNKQMLPGGSKEMSDLQAGYFDPHFVRIFEGEGYINLNQ
VRRRDMVEAAKKNLGKAFLPSNGEKKPCGLGSYYGTIGGPVPFFSAQSKPREKYKAPGKNLYTNPGKKGTGYGYANITIG
KQFSHSADFYDAAKLKYKKANEERHRLLKGAPFKLNLHPRDYFDANPYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPG
GMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVESIMTLNVRRALNSKNYKTSSVPSY*

Gene Symbol:CFAP96
Accession:NM_001346007
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCHNLIMWLRKLLWNNRWSSPIFQRTVKTSRKIQGTWKEFIHKPGKERNWIWKANEERHRLLKGAPFKLNLHPRDYFDAN
PYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPGGMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVES
IMTLNVRRALNSKNYKTSSVPSY*
Variant Samples