RGD:13526236 Rat Genome Database

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Variant: RGD:13526236 -  Homo sapiens

RGD ID: 13526236
RS ID: rs1556968640
ClinVar ID: CV508126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FTSJ1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 48,340,048
GRCh38 X 48,481,660
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000023.11:g.48481660C>A
NM_012280.2:c.600C>A
NP_036412.1:p.Asp200Glu
NG_008879.1:g.10500C>A
More... 		05/03/2017 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FTSJ1
Accession:XM_005272595
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA
PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG
RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYEPPEGFIPDLSKPLLDHSYDFNQLDGPTRIIVPFVTCGDLS
SYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEMED
NEMSCSP*

Gene Symbol:FTSJ1
Accession:NM_012280
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA
PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG
RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYEPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD
LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEM
EDNEMSCSP*

Gene Symbol:FTSJ1
Accession:XM_024452359
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA
PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG
RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYEPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD
LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEM
EDNEMSCSP*

Gene Symbol:FTSJ1
Accession:XM_047441944
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA
PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG
RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYEPPEGFIPDLSKPLLDHSYDFNQLDGPTRIIVPFVTCGDLS
SYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEVWK
CDSQPALTPSPCAFF*

Gene Symbol:FTSJ1
Accession:XM_047441942
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA
PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG
RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYEPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD
LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEV
WKCDSQPALTPSPCAFF*

Gene Symbol:FTSJ1
Accession:XM_047441943
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA
PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG
RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYEPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD
LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEV
WKCDSQPALTPSPCAFF*

Gene Symbol:FTSJ1
Accession:XM_047441945
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA
PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG
RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYEPPEGFIPDLSKPLLDHSYDFNQLDGPTRIIVPFVTCGDLS
SYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEVWK
CDSQPALTPSPCAFF*

Gene Symbol:FTSJ1
Accession:NM_177439
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA
PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG
RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYEPPEGFIPDLSKPLLDHSYDFNQLDGPTRIIVPFVTCGDLS
SYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEMED
NEMSCSP*

Gene Symbol:FTSJ1
Accession:NM_001282157
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALNIATHVLKPGGCFVAKIFRGRDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYEPPEGFIPDLSKPLLDHS
YDPDFNQLDGPTRIIVPFVTCGDLSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPI
SRVDTFPQPLAAPQCHTLLAPEMEDNEMSCSP*

Gene Symbol:FTSJ1
Accession:XR_007068186
Location:EXON;NON-CODING

Gene Symbol:FTSJ1
Accession:XR_949016
Location:EXON;NON-CODING

Gene Symbol:FTSJ1
Accession:XR_949015
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000603865 CLINVAR
dbSNP (RS) rs1556968640 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FTSJ1 CLINVAR
OMIM 300499 CLINVAR