RGD:10396371 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:10396371 -  Homo sapiens

RGD ID: 10396371
RS ID: rs768627011
ClinVar ID: CV201734
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MFSD8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 128,842,849
GRCh38 4 127,921,694
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008657.1:g.49291G>A
NC_000004.12:g.127921694C>T
NC_000004.11:g.128842849C>T
NP_689991.1:p.Asp394Asn
More... 		06/10/2014 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MFSD8
Accession:XM_017007989
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_047449994
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_047449998
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_005262898
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:XM_047449995
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:NM_001410766
Location:3UTRS;EXON

Gene Symbol:MFSD8
Accession:NM_001371591
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 394
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQVSQGVYMGWLTASGSGARILGPMFISQVYA
HWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001363521
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAASTDEAQVPQGNID
QVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLI
VVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERPTGCSIEQAWCLYTPVIHLAQFLTSAVL
IGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKR
LIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001363520
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 327
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVL
YNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLW
KSPMEDNNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARIL
GPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371594
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPEHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETI
ITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDL
HNNSIPNTTFGEIIIGLWKSPMEDNNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKP
QGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371595
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGFILGPEHRVDDSGRQCKSINFEEAST
DEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKI
GERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERPTGCSIEQAWCLYTPVI
HLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVL
TITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371593
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAVFQTCFTFLGEKGV
TWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFV
TLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWG
NQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSY
TLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE
*

Gene Symbol:MFSD8
Accession:XM_047449993
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGFILGPASTDEAQVPQGNIDQVAVVAI
NVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFF
ILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPV
CNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVR
YGRIQE*

Gene Symbol:MFSD8
Accession:XM_047449992
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGFILGPEHRVDDSGRQCKSINFEEAST
DEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKI
GERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERPTGCSIEQAWCLYTPVI
HLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVL
TITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNG
IILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSP
MEDNNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPM
FISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:XM_024453982
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQ
CKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVI
FLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERPTGCSI
EQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRW
AFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_152778
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 394
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371590
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGATSLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKL
QINMYTTPVLLSAFLGILNIILILAILREHRVDDSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFAL
FETIITPLTMDMYAWTQEQAVLYNGIILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQ
WEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKIL
GPKPQGVYMGWLTASGSGARILGPMFISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371592
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 396
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPGRFFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVD
DSGRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGV
EAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERP
TGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAH
WGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001371596
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 394
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVI
ASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLHIPASHNKYYMLVARGLLGIGAGNVAVVRSYTAGAT
SLQERTSSMANISMCQALGFILGPVFQTCFTFLGEKGVTWDVIKLQINMYTTPVLLSAFLGILNIILILAILREHRVDDS
GRQCKSINFEEASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNGIILAALGVEA
VVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSPMEDNNERPTG
CSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPMFISQVYAHWG
PRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:NM_001410765
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 244
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLSSVGFSVVMMSIWPYLQKIDPTADTSFLGWVIASYSLGQMVASPIFGLWSNYRPRKEPLIVSILISVAANCLYAYLH
IPASHNKYYMLVARGLLGIGAASTDEAQVPQGNIDQVAVVAINVLFFVTLFIFALFETIITPLTMDMYAWTQEQAVLYNG
IILAALGVEAVVIFLGVKLLSKKIGERAILLGGLIVVWVGFFILLPWGNQFPKIQWEDLHNNSIPNTTFGEIIIGLWKSP
MEDNNERPTGCSIEQAWCLYTPVIHLAQFLTSAVLIGLGYPVCNLMSYTLYSKILGPKPQGVYMGWLTASGSGARILGPM
FISQVYAHWGPRWAFSLVCGIIVLTITLLGVVYKRLIALSVRYGRIQE*

Gene Symbol:MFSD8
Accession:XM_047449999
Location:INTRON

Gene Symbol:MFSD8
Accession:XM_047449997
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000188182 CLINVAR
dbSNP (RS) rs768627011 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MFSD8 CLINVAR
OMIM 611124 CLINVAR