RGD:38499362 Rat Genome Database

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Variant: RGD:38499362 -  Homo sapiens

RGD ID: 38499362
RS ID: rs748973198
ClinVar ID: CV952232
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLVCR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 213,046,044
GRCh38 1 212,872,702
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014053.4:c.908C>T
NG_028131.1:g.19448C>T
NC_000001.11:g.212872702C>T
NC_000001.10:g.213046044C>T
More... 		11/15/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FLVCR1
Accession:XM_011509448
Location:3UTRS;EXON

Gene Symbol:FLVCR1
Accession:XM_011509447
Location:3UTRS;EXON

Gene Symbol:FLVCR1
Accession:NM_014053
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 303
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPDDEEGAAVAPGHPLAKGYLPLPRGAPVGKESVELQNGPKAGTFPVNGAPRDSLAAASGVLGGPQTPLAPEEETQAR
LLPAGAGAETPGAESSPLPLTALSPRRFVVLLIFSLYSLVNAFQWIQYSIISNVFEGFYGVTLLHIDWLSMVYMLAYVPL
IFPATWLLDTRGLRLTALLGSGLNCLGAWIKCGSVQQHLFWVTMLGQCLCSVAQVFILGLPSRIASVWFGPKEVSTACAT
AVLGNQLGTAVGFLLPPVLVPNTQNDTNLLACNISTMFYGTSAVATLLFILTAIAFKEKPRYLPSQAQAALQDSPPEEYS
YKKSIRNLFKNIPFVLLLITYGIMTGAFYSVSTLLNQMILTYYEGEEVNAGRIGLTLVVAGMVGSILCGLWLDYTKTYKQ
TTLIVYILSFIGMVIFTFTLDLRYIIIVFVTGGVLGFFMTGYLPLGFEFAVEITYPESEGTSSGLLNASAQIFGILFTLA
QGKLTSDYGPKAGNIFLCVWMFIGIILTALIKSDLRRHNINIGITNVDVKAIPADSPTDQEPKTVMLSKQSESAI*

Gene Symbol:FLVCR1
Accession:XR_921769
Location:EXON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_247024
Location:EXON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_007059232
Location:EXON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_426772
Location:EXON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_426771
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001244538 CLINVAR
dbSNP (RS) rs748973198 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FLVCR1 CLINVAR
OMIM 609144 CLINVAR