RGD:15172612 Rat Genome Database

Variant: RGD:15172612 - Homo sapiens

RGD ID:

15172612

RS ID:

rs370444222

ClinVar ID:

CV774075

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FTSJ1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	48,337,446
GRCh38	X	48,479,058

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001282157.1:c.-56C>T NM_012280.4:c.303C>T NM_177439.3:c.303C>T NG_008879.1:g.7898C>T More...	09/14/2018	5 prime utr variant	benign	none provided

Variant Details

Variant Transcripts

Gene Symbol:	FTSJ1
Accession:	NM_001282157
Location:	5UTRS;EXON

Gene Symbol:	FTSJ1
Accession:	NM_012280
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEM EDNEMSCSP*

Gene Symbol:	FTSJ1
Accession:	XM_047441945
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDFNQLDGPTRIIVPFVTCGDLS SYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEVWK CDSQPALTPSPCAFF*

Gene Symbol:	FTSJ1
Accession:	XM_047441944
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDFNQLDGPTRIIVPFVTCGDLS SYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEVWK CDSQPALTPSPCAFF*

Gene Symbol:	FTSJ1
Accession:	XM_047441943
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEV WKCDSQPALTPSPCAFF*

Gene Symbol:	FTSJ1
Accession:	NM_177439
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDFNQLDGPTRIIVPFVTCGDLS SYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEMED NEMSCSP*

Gene Symbol:	FTSJ1
Accession:	XM_005272595
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDFNQLDGPTRIIVPFVTCGDLS SYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEMED NEMSCSP*

Gene Symbol:	FTSJ1
Accession:	XM_047441942
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEV WKCDSQPALTPSPCAFF*

Gene Symbol:	FTSJ1
Accession:	XM_024452359
Location:	EXON
Amino Acid Prediction:	I to I (synonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMA PLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRG RDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGD LSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEM EDNEMSCSP*

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

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

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000928150	CLINVAR
dbSNP (RS)	rs370444222	CLINVAR
MedGen	CN517202	CLINVAR
NCBI Gene	FTSJ1	CLINVAR
OMIM	300499	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:15172612 - Homo sapiens