RGD:26917873 Rat Genome Database

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Variant: RGD:26917873 -  Homo sapiens

RGD ID: 26917873
RS ID: rs1939469611
ClinVar ID: CV849064
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TXNRD2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 19,883,090
GRCh38 22 19,895,567
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001352300.2:c.786G>A
NM_001282512.3:c.789G>A
NM_006440.5:c.789G>A
LRG_417:g.51270G>A
More... 		03/25/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TXNRD2
Accession:NM_001352301
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 233
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDQAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRWGLGGTCVNVGCIPKKLMHQAALLGGLIQDA
PNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKEILLSADHIIIATGG
RPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIGLDTTIMMRSIPLRGFDQQMSSIVIEHMAS
HGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVPDTRSLNLEKAGVDTSPDTQKILVDSREATS
VPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVFTPLEYGCVGLSEEEAVARHGQEHVEVYHAH
YKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALGIKCGASYAQVMRTVGIHPTCSEEVVKLRIS
KRSGLDPTVTGC*G*

Gene Symbol:TXNRD2
Accession:NM_001282512
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 263
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRW
GLGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKAS
FVDEHTVCGVAKGGKEILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGI
GLDTTIMMRSIPLRGFDQQMSSIVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIAPCI
SACLPTTVGHAGKNQRRD*

Gene Symbol:TXNRD2
Accession:NM_001352303
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRWGLGGTCVNVGCIPKKLMHQAALLGGLIQDAPN
YGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKEILLSADHIIIATGGRP
RYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIGLDTTIMMRSIPLRGFDQQMSSIVIEHMASHG
TRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIAPCISACLPTTVGHAGKNQRRD*

Gene Symbol:TXNRD2
Accession:NM_001352300
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRWG
LGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASF
VDEHTVCGVAKGGKEILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIG
LDTTIMMRSIPLRGFDQQMSSIVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVPD
TRSLNLEKAGVDTSPDTQKILVDSREATSVPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVFT
PLEYGCVGLSEEEAVARHGQEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALGI
KCGASYAQVMRTVGIHPTCSEEVVKLRISKRSGLDPTVTGC*G*

Gene Symbol:TXNRD2
Accession:NM_001352302
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKE
ILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIGLDTTIMMRSIPLRGF
DQQMSSIVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVPDTRSLNLEKAGVDTSP
DTQKILVDSREATSVPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVFTPLEYGCVGLSEEEAV
ARHGQEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALGIKCGASYAQVMRTVGI
HPTCSEEVVKLRISKRSGLDPTVTGC*G*

Gene Symbol:TXNRD2
Accession:NM_006440
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 263
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRW
GLGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKAS
FVDEHTVCGVAKGGKEILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGI
GLDTTIMMRSIPLRGFDQQMSSIVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVP
DTRSLNLEKAGVDTSPDTQKILVDSREATSVPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVF
TPLEYGCVGLSEEEAVARHGQEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALG
IKCGASYAQVMRTVGIHPTCSEEVVKLRISKRSGLDPTVTGC*G*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001042402 CLINVAR
dbSNP (RS) rs1939469611 CLINVAR
MedGen C0007193 CLINVAR
NCBI Gene TXNRD2 CLINVAR
OMIM 606448 CLINVAR
SNOMED CT 195021004 CLINVAR