RGD:15172486 Rat Genome Database

Variant: RGD:15172486 - Homo sapiens

RGD ID:

15172486

RS ID:

rs149966237

ClinVar ID:

CV706175

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FAM3A

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	153,735,814
GRCh38	X	154,507,483

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_001171134.3:c.342C>T NM_001171133.3:c.279C>T NM_001171132.3:c.393C>T NM_001282312.2:c.393C>T More...	04/11/2018	synonymous variant	benign	none provided

Variant Details

Variant Transcripts

Gene Symbol:	FAM3A
Accession:	NM_001282311
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRGQHPPGWAWQWLSSHPATLHQLECSGAISVHCNLYLLGSSDSSAPASRVAETTGPESSVTAAPRARKYKCGLPQPCP EEHLAFRVVSGAANVIGPKICLEDKMLMSSVKDNVGRGLNIALVNGVSGELIEARAFDMWAGDVNDLLKFIRPLHEGTLV FVASYDDPATKMNEETRKLFSELGSRNAKELAFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRR STAS*

Gene Symbol:	FAM3A
Accession:	XM_024452418
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	128

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRGQHPPGWAWQWLSSHPATLHQLECSGAISVHCNLYLLGSSDSSAPASRVAETTGPESSVTAAPRARKYKCGLPQPCP EEHLAFRVVSGAANVIGPKICLEDKMLMSSVKDNVGRGLNIALVNDVNDLLKFIRPLHEGTLVFVASYDDPATKMNEETR KLFSELGSRNAKELAFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS*

Gene Symbol:	FAM3A
Accession:	NM_021806
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLAGPLRIVVLVVSVGVTWIVVSILLGGPGSGFPRIQQLFTSPESSVTAAPRARKYKCGLPQPCPEEHLAFRVVSGAAN VIGPKICLEDKMLMSSVKDNVGRGLNIALVNGVSGELIEARAFDMWAGDVNDLLKFIRPLHEGTLVFVASYDDPATKMNE ETRKLFSELGSRNAKELAFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS*

Gene Symbol:	FAM3A
Accession:	NM_001171134
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLAGPLRIVVLVVSVGVTWIVVSILLGGPGSGFPRIQQLFTSPESSVTAAPRARKYKCGLPQPCPEEHLAFRVVSGAAN VIGPKICLEDKMLMSSVKDNVGRGLNIALVNDVNDLLKFIRPLHEGTLVFVASYDDPATKMNEETRKLFSELGSRNAKEL AFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS*

Gene Symbol:	FAM3A
Accession:	NM_001282312
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLAGPLRIVVLVVSVGVTWIVVSILLGGPGSGFPRIQQLFTSPESSVTAAPRARKYKCGLPQPCPEEHLAFRVVSGAAN VIGPKICLEDKMLMSSVKDNVGRGLNIALVNGVSGELIEARAFDMWAGDVNDLLKFIRPLHEGTLVFVASYDDPATKMNE ETRKLFSELGSRNAKELAFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS*

Gene Symbol:	FAM3A
Accession:	XM_006724832
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	139

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLAGPLRIVVLVVSVGVTWIVVSILLGGPGSGFPRIQQLFTSPESSVTAAPRARKYKCGLPQPCPEEHLAFRVVSGAAN VIGPKICLEDKMLMSSVKDNVGRGLNIALVNAGPLPPDTGVSGELIEARAFDMWAGDVNDLLKFIRPLHEGTLVFVASYD DPATKMNEETRKLFSELGSRNAKELAFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS*

Gene Symbol:	FAM3A
Accession:	NM_001363822
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLAGPLRIVVLVVSVGVTWIVVSILLGGPGSGFPRIQQLFTSPESSVTAAPRARKYKCGLPQPCPEEHLAFRVVSGAAN VIGPKICLEDKMLMSSVKDNVGRGLNIALVNGPLPPDTGVSGELIEARAFDMWAGDVNDLLKFIRPLHEGTLVFVASYDD PATKMNEETRKLFSELGSRNAKELAFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS*

Gene Symbol:	FAM3A
Accession:	XM_047442293
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	98

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDNTCYPCPAPRARKYKCGLPQPCPEEHLAFRVVSGAANVIGPKICLEDKMLMSSVKDNVGRGLNIALVNAGPLPPDTGV SGELIEARAFDMWAGDVNDLLKFIRPLHEGTLVFVASYDDPATKMNEETRKLFSELGSRNAKELAFRDSWVFVGAKGVQN KSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS*

Gene Symbol:	FAM3A
Accession:	NM_001171133
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	93

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLAGPESSVTAAPRARKYKCGLPQPCPEEHLAFRVVSGAANVIGPKICLEDKMLMSSVKDNVGRGLNIALVNGVSGELI EARAFDMWAGDVNDLLKFIRPLHEGTLVFVASYDDPATKMNEETRKLFSELGSRNAKELAFRDSWVFVGAKGVQNKSPFE QHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS*

Gene Symbol:	FAM3A
Accession:	XM_024452416
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRGQHPPGWAWQWLSSHPATLHQLECSGAISVHCNLYLLGSSDSSAPASRVAETTGPESSVTAAPRARKYKCGLPQPCP EEHLAFRVVSGAANVIGPKICLEDKMLMSSVKDNVGRGLNIALVNGPLPPDTGVSGELIEARAFDMWAGDVNDLLKFIRP LHEGTLVFVASYDDPATKMNEETRKLFSELGSRNAKELAFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEM EGCIPRRSTAS*

Gene Symbol:	FAM3A
Accession:	NM_001171132
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLAGPLRIVVLVVSVGVTWIVVSILLGGPGSGFPRIQQLFTSPESSVTAAPRARKYKCGLPQPCPEEHLAFRVVSGAAN VIGPKICLEDKMLMSSVKDNVGRGLNIALVNGVSGELIEARAFDMWAGDVNDLLKFIRPLHEGTLVFVASYDDPATKMNE ETRKLFSELGSRNAKELAFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS*

Gene Symbol:	FAM3A
Accession:	XM_005277879
Location:	EXON
Amino Acid Prediction:	N to N (synonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRLAGPLRIVVLVVSVGVTWIVVSILLGGPGSGFPRIQQLFTSPESSVTAAPRARKYKCGLPQPCPEEHLAFRVVSGAAN VIGPKICLEDKMLMSSVKDNVGRGLNIALVNDVNDLLKFIRPLHEGTLVFVASYDDPATKMNEETRKLFSELGSRNAKEL AFRDSWVFVGAKGVQNKSPFEQHVKNSKHSNKYEGWPEALEMEGCIPRRSTAS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000950037	CLINVAR
dbSNP (RS)	rs149966237	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	FAM3A	CLINVAR
OMIM	300492	CLINVAR

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

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

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

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Variant: RGD:15172486 - Homo sapiens