RGD:15187062 Rat Genome Database

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Variant: RGD:15187062 -  Homo sapiens

RGD ID: 15187062
RS ID: rs200391494
ClinVar ID: CV698250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126806684  TKT  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 53,262,106
GRCh38 3 53,228,090
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258028.2:c.1563C>G
NR_047580.2:n.1509C>G
NP_001128527.1:p.His513Gln
NP_001128527.1:p.His513Gln
More... 		03/31/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TKT
Accession:NM_001064
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 513
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESYHKPDQQKLQALKDTANRLRISSIQATTAAGSGHPTSCCSAAEIMAVLFFHTMRYKSQDPRNPHNDRFVLSKGHAAP
ILYAVWAEAGFLAEAELLNLRKISSDLDGHPVPKQAFTDVATGSLGQGLGAACGMAYTGKYFDKASYRVYCLLGDGELSE
GSVWEAMAFASIYKLDNLVAILDINRLGQSDPAPLQHQMDIYQKRCEAFGWHAIIVDGHSVEELCKAFGQAKHQPTAIIA
KTFKGRGITGVEDKESWHGKPLPKNMAEQIIQEIYSQIQSKKKILATPPQEDAPSVDIANIRMPSLPSYKVGDKIATRKA
YGQALAKLGHASDRIIALDGDTKNSTFSEIFKKEHPDRFIECYIAEQNMVSIAVGCATRNRTVPFCSTFAAFFTRAFDQI
RMAAISESNINLCGSHCGVSIGEDGPSQMALEDLAMFRSVPTSTVFYPSDGVATEKAVELAANTKGICFIRTSRPENAII
YNNNEDFQVGQAKVVLKSKDDQVTVIGAGVTLQEALAAAELLKKEKINIRVLDPFTIKPLDRKLILDSARATKGRILTVE
DHYYEGGIGEAVSSAVVGEPGITVTHLAVNRVPRSGKPAELLKMFGIDRDAIAQAVRGLITKA*

Gene Symbol:TKT
Accession:NM_001135055
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 513
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESYHKPDQQKLQALKDTANRLRISSIQATTAAGSGHPTSCCSAAEIMAVLFFHTMRYKSQDPRNPHNDRFVLSKGHAAP
ILYAVWAEAGFLAEAELLNLRKISSDLDGHPVPKQAFTDVATGSLGQGLGAACGMAYTGKYFDKASYRVYCLLGDGELSE
GSVWEAMAFASIYKLDNLVAILDINRLGQSDPAPLQHQMDIYQKRCEAFGWHAIIVDGHSVEELCKAFGQAKHQPTAIIA
KTFKGRGITGVEDKESWHGKPLPKNMAEQIIQEIYSQIQSKKKILATPPQEDAPSVDIANIRMPSLPSYKVGDKIATRKA
YGQALAKLGHASDRIIALDGDTKNSTFSEIFKKEHPDRFIECYIAEQNMVSIAVGCATRNRTVPFCSTFAAFFTRAFDQI
RMAAISESNINLCGSHCGVSIGEDGPSQMALEDLAMFRSVPTSTVFYPSDGVATEKAVELAANTKGICFIRTSRPENAII
YNNNEDFQVGQAKVVLKSKDDQVTVIGAGVTLQEALAAAELLKKEKINIRVLDPFTIKPLDRKLILDSARATKGRILTVE
DHYYEGGIGEAVSSAVVGEPGITVTHLAVNRVPRSGKPAELLKMFGIDRDAIAQAVRGLITKA*

Gene Symbol:TKT
Accession:NM_001258028
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 521
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESYHKPDQQKLQALKDTANRLRISSIQATTAAGSGHPTSCCSAAEIMAVLFFHTMRYKSQDPRNPHNDRFVLSKGHAAP
ILYAVWAEAGFLAEAELLNLRKISSDLDGHPVPKQAFTDVATGSLGQGLGAACGMAYTGKYFDKASLPSSWDYSYRVYCL
LGDGELSEGSVWEAMAFASIYKLDNLVAILDINRLGQSDPAPLQHQMDIYQKRCEAFGWHAIIVDGHSVEELCKAFGQAK
HQPTAIIAKTFKGRGITGVEDKESWHGKPLPKNMAEQIIQEIYSQIQSKKKILATPPQEDAPSVDIANIRMPSLPSYKVG
DKIATRKAYGQALAKLGHASDRIIALDGDTKNSTFSEIFKKEHPDRFIECYIAEQNMVSIAVGCATRNRTVPFCSTFAAF
FTRAFDQIRMAAISESNINLCGSHCGVSIGEDGPSQMALEDLAMFRSVPTSTVFYPSDGVATEKAVELAANTKGICFIRT
SRPENAIIYNNNEDFQVGQAKVVLKSKDDQVTVIGAGVTLQEALAAAELLKKEKINIRVLDPFTIKPLDRKLILDSARAT
KGRILTVEDHYYEGGIGEAVSSAVVGEPGITVTHLAVNRVPRSGKPAELLKMFGIDRDAIAQAVRGLITKA*

Gene Symbol:TKT
Accession:XM_011534054
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 521
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESYHKPDQQKLQALKDTANRLRISSIQATTAAGSGHPTSCCSAAEIMAVLFFHTMRYKSQDPRNPHNDRFVLSKGHAAP
ILYAVWAEAGFLAEAELLNLRKISSDLDGHPVPKQAFTDVATGSLGQGLGAACGMAYTGKYFDKASLPSSWDYSYRVYCL
LGDGELSEGSVWEAMAFASIYKLDNLVAILDINRLGQSDPAPLQHQMDIYQKRCEAFGWHAIIVDGHSVEELCKAFGQAK
HQPTAIIAKTFKGRGITGVEDKESWHGKPLPKNMAEQIIQEIYSQIQSKKKILATPPQEDAPSVDIANIRMPSLPSYKVG
DKIATRKAYGQALAKLGHASDRIIALDGDTKNSTFSEIFKKEHPDRFIECYIAEQNMVSIAVGCATRNRTVPFCSTFAAF
FTRAFDQIRMAAISESNINLCGSHCGVSIGEDGPSQMALEDLAMFRSVPTSTVFYPSDGVATEKAVELAANTKGICFIRT
SRPENAIIYNNNEDFQVGQAKVVLKSKDDQVTVIGAGVTLQEALAAAELLKKEKINIRVLDPFTIKPLDRKLILDSARAT
KGRILTVEDHYYEGGIGEAVSSAVVGEPGITVTHLAVNRVPRSGKPAELLKMFGIDRDAIAQAVRGLITKA*

Gene Symbol:TKT
Accession:NR_047580
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000953475 CLINVAR
  RCV003943058 CLINVAR
dbSNP (RS) rs200391494 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC126806684 CLINVAR
  TKT CLINVAR
OMIM 606781 CLINVAR