RGD:13832016 Rat Genome Database

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Variant: RGD:13832016 -  Homo sapiens

RGD ID: 13832016
RS ID: rs1055355510
ClinVar ID: CV582513
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC5A2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 31,499,363
GRCh38 16 31,488,042
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_003032.1:p.Ile297Thr
NC_000016.9:g.31499363T>C
NM_003041.4:c.890T>C
NG_012892.1:g.9925T>C
More... 		09/16/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC5A2
Accession:XM_006721072
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVTVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGLRGLMLAVMLAALMSSLASIFNS
SSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRV
NEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVHYLYFAIVLFFCSGLLTLTVSLCTAPIPRKHLHRLV
FSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNGRAPCWEVGLEELSSRKLTAGPQFPSEPQAPAPSLFRQCLLWF
CGMSRGGVGSPPPLTQEEAAAAARRLEDISEDPSWARVVNLNALLMMAVAVFLWGFYA*

Gene Symbol:SLC5A2
Accession:NM_003041
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVTVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGLRGLMLAVMLAALMSSLASIFNS
SSTLFTMDIYTRLRPRAGDRELLLVGRLWVVFIVVVSVAWLPVVQAAQGGQLFDYIQAVSSYLAPPVSAVFVLALFVPRV
NEQGAFWGLIGGLLMGLARLIPEFSFGSGSCVQPSACPAFLCGVHYLYFAIVLFFCSGLLTLTVSLCTAPIPRKHLHRLV
FSLRHSKEEREDLDADEQQGSSLPVQNGCPESAMEMNEPQAPAPSLFRQCLLWFCGMSRGGVGSPPPLTQEEAAAAARRL
EDISEDPSWARVVNLNALLMMAVAVFLWGFYA*

Gene Symbol:SLC5A2
Accession:XM_024450402
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEHTEAGSAPEMGAQKALIDNPADILVIAAYFLLVIGVGLWSMCRTNRGTVGGYFLAGRSMVWWPVGASLFASNIGSGH
FVGLAGTGAASGLAVAGFEWNALFVVLLLGWLFAPVYLTAGVITMPQYLRKRFGGRRIRLYLSVLSLFLYIFTKISVDMF
SGAVFIQQALGWNIYASVIALLGITMIYTVTGGLAALMYTDTVQTFVILGGACILMGYAFHEVGGYSGLFDKYLGAATSL
TVSEDPAVGNISSFCYRPRPDSYHLLRHPVTGDLPWPALLLGLTIVSGWYWCSDQVTVQRCLAGKSLTHIKAGCILCGYL
KLTPMFLMVMPGMISRILYPDEVACVVPEVCRRVCGTEVGCSNIAYPRLVVKLMPNGRLLGTHRGPADGPGTPDSRVLLR
LGQLCAALGVPSFPLRRALPLLRHCAVLLLWPPHPHGLPVHRAHPQKAPPPPGLQSPA*

Gene Symbol:SLC5A2
Accession:NR_130783
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000722701 CLINVAR
dbSNP (RS) rs1055355510 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SLC5A2 CLINVAR
OMIM 182381 CLINVAR