RGD:152999619 Rat Genome Database

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Variant: RGD:152999619 -  Homo sapiens

RGD ID: 152999619
RS ID: rs2142469782
ClinVar ID: CV1683204
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC46A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 26,732,942
GRCh38 17 28,405,924
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_183:g.5287G>A
NG_013306.1:g.5287G>A
NM_080669.6:c.191G>A
NC_000017.11:g.28405924C>T
More... 		04/24/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC46A1
Accession:XM_047435279
Location:5UTRS;EXON

Gene Symbol:SLC46A1
Accession:XM_017024110
Location:5UTRS;EXON

Gene Symbol:SLC46A1
Accession:XM_047435280
Location:5UTRS;EXON

Gene Symbol:SLC46A1
Accession:NM_080669
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGSASPPEKPRARPAAAVLCRGPVEPLVFLANFALVLQGPLTTQYLWHRFSADLGYNGTRQREGCSNRSADPTMQEVET
LTSHWTLYMNVGGFLVGLFSSTLLGAWSDSVGRRPLLVLASLGLLLQALVSVFVVQLQLHVGYFVLGRILCALLGDFGGL
LAASFASVADVSSSRSRTFRMALLEASIGVAGMLASLLGGHWLRAQGYANPFWLALALLIAMTLYAAFCFGETLKEPKST
RLFTFRHHRSIVQLYVAPAPEKSRKHLALYSLAIFVVITVHFGAQDILTLYELSTPLCWDSKLIGYGSAAQHLPYLTSLL
ALKLLQYCLADAWVAEIGLAFNILGMVVFAFATITPLMFTGYGLLFLSLVITPVIRAKLSKLVRETEQGALFSAVACVNS
LAMLTASGIFNSLYPATLNFMKGFPFLLGAGLLLIPAVLIGMLEKADPHLEFQQFPQSP*

Gene Symbol:SLC46A1
Accession:XM_005277786
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGSASPPEKPRARPAAAVLCRGPVEPLVFLANFALVLQGPLTTQYLWHRFSADLGYNGTRQREGCSNRSADPTMQEVET
LTSHWTLYMNVGGFLVGLFSSTLLGAWSDSVGRRPLLVLASLGLLLQALVSVFVVQLQLHVGYFVLGRILCALLGDFGGL
LAASFASVADVSSSRSRTFRMALLEASIGVAGMLASLLGGHWLRAQGYANPFWLALALLIAMTLYAAFCFGETLKEPKST
RLFTFRHHRSIVQLYVAPAPEKSRKHLALYSLAIFVVITVHFGAQDILTLYELSTPLCWDSKLIGYGSAAQHLPYLTSLL
ALKLLQYCLADAWVAEIGLAFNILGMVVFAFATITPLMFTGCWKRLILTSSSSSFPRAPDLPGPEDRGQEEQSEHQATGG
LQLEAQPTAGQATLV*

Gene Symbol:SLC46A1
Accession:NM_001242366
Location:EXON
Amino Acid Prediction: G to E (nonsynonymous)
Amino Acid Position: 64
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGSASPPEKPRARPAAAVLCRGPVEPLVFLANFALVLQGPLTTQYLWHRFSADLGYNGTRQREGCSNRSADPTMQEVET
LTSHWTLYMNVGGFLVGLFSSTLLGAWSDSVGRRPLLVLASLGLLLQALVSVFVVQLQLHVGYFVLGRILCALLGDFGGL
LAASFASVADVSSSRSRTFRMALLEASIGVAGMLASLLGGHWLRAQGYANPFWLALALLIAMTLYAAFCFGETLKEPKST
RLFTFRHHRSIVQLYVAPAPEKSRKHLALYSLAIFVVITVHFGAQDILTLYELSTPLCWDSKLIGYGSAAQHLPYLTSLL
ALKLLQYCLADAWVAEIGLAFNILGMVVFAFATITPLMFTGALFSAVACVNSLAMLTASGIFNSLYPATLNFMKGFPFLL
GAGLLLIPAVLIGMLEKADPHLEFQQFPQSP*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002252388 CLINVAR
  RCV003101383 CLINVAR
dbSNP (RS) rs2142469782 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC46A1 CLINVAR
OMIM 611672 CLINVAR