RGD:11544669 Rat Genome Database

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Variant: RGD:11544669 -  Homo sapiens

RGD ID: 11544669
RS ID: rs201971987
ClinVar ID: CV259121
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127895338  TXNRD2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 19,868,153
GRCh38 22 19,880,630
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_417:g.66207T>C
NG_011835.1:g.66207T>C
NC_000022.11:g.19880630A>G
NC_000022.10:g.19868153A>G
More... 		02/26/2020 missense variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TXNRD2
Accession:NM_001352302
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 296
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKE
ILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIGLDTTIMMRSIPLRGF
DQQMSSMVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVPDTRSLNLEKAGVDTSP
DTQKILVDSREATSVPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDHDNVPTTVFTPLEYGCVGLSEEEAV
ARHGQEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALGIKCGASYAQVMRTVGI
HPTCSEEVVKLRISKRSGLDPTVTGC*G*

Gene Symbol:TXNRD2
Accession:NM_006440
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 392
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRW
GLGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKAS
FVDEHTVCGVAKGGKEILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGI
GLDTTIMMRSIPLRGFDQQMSSMVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVP
DTRSLNLEKAGVDTSPDTQKILVDSREATSVPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDHDNVPTTVF
TPLEYGCVGLSEEEAVARHGQEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALG
IKCGASYAQVMRTVGIHPTCSEEVVKLRISKRSGLDPTVTGC*G*

Gene Symbol:TXNRD2
Accession:NM_001352300
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRWG
LGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASF
VDEHTVCGVAKGGKEILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIG
LDTTIMMRSIPLRGFDQQMSSMVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVPD
TRSLNLEKAGVDTSPDTQKILVDSREATSVPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDHDNVPTTVFT
PLEYGCVGLSEEEAVARHGQEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALGI
KCGASYAQVMRTVGIHPTCSEEVVKLRISKRSGLDPTVTGC*G*

Gene Symbol:TXNRD2
Accession:NM_001352301
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDQAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRWGLGGTCVNVGCIPKKLMHQAALLGGLIQDA
PNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKEILLSADHIIIATGG
RPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIGLDTTIMMRSIPLRGFDQQMSSMVIEHMAS
HGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVPDTRSLNLEKAGVDTSPDTQKILVDSREATS
VPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDHDNVPTTVFTPLEYGCVGLSEEEAVARHGQEHVEVYHAH
YKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALGIKCGASYAQVMRTVGIHPTCSEEVVKLRIS
KRSGLDPTVTGC*G*

Gene Symbol:TXNRD2
Accession:NR_147957
Location:EXON;NON-CODING

Gene Symbol:TXNRD2
Accession:NM_001282512
Location:INTRON

Gene Symbol:TXNRD2
Accession:NM_001352303
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28074886   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000244103 CLINVAR
  RCV000435580 CLINVAR
  RCV000467999 CLINVAR
dbSNP (RS) rs201971987 CLINVAR
MedGen C0007193 CLINVAR
  C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene TXNRD2 CLINVAR
OMIM 606448 CLINVAR
SNOMED CT 195021004 CLINVAR