RGD:11552267 Rat Genome Database

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Variant: RGD:11552267 -  Homo sapiens

RGD ID: 11552267
RS ID: rs769258408
ClinVar ID: CV259111
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TXNRD2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 19,864,692
GRCh38 22 19,877,169
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.1508T>C
LRG_417:g.69668T>C
NG_011835.1:g.69668T>C
NC_000022.11:g.19877169A>G
More... 		05/03/2013 missense variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:TXNRD2
Accession:NM_001352302
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 408
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKE
ILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIGLDTTIMMRSIPLRGF
DQQMSSMVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVPDTRSLNLEKAGVDTSP
DTQKILVDSREATSVPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVFTPLEYGCVGLSEEEAV
ARHGQEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALGIKCGASYAQVMRTVGI
HPTCSEEAVKLRISKRSGLDPTVTGC*G*

Gene Symbol:TXNRD2
Accession:NM_001352301
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 474
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDQAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRWGLGGTCVNVGCIPKKLMHQAALLGGLIQDA
PNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASFVDEHTVCGVAKGGKEILLSADHIIIATGG
RPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIGLDTTIMMRSIPLRGFDQQMSSMVIEHMAS
HGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVPDTRSLNLEKAGVDTSPDTQKILVDSREATS
VPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVFTPLEYGCVGLSEEEAVARHGQEHVEVYHAH
YKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALGIKCGASYAQVMRTVGIHPTCSEEAVKLRIS
KRSGLDPTVTGC*G*

Gene Symbol:TXNRD2
Accession:NM_006440
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 504
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRW
GLGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKAS
FVDEHTVCGVAKGGKEILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGI
GLDTTIMMRSIPLRGFDQQMSSMVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVP
DTRSLNLEKAGVDTSPDTQKILVDSREATSVPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVF
TPLEYGCVGLSEEEAVARHGQEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALG
IKCGASYAQVMRTVGIHPTCSEEAVKLRISKRSGLDPTVTGC*G*

Gene Symbol:TXNRD2
Accession:NM_001352300
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 503
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAMAVALRGLGGRFRWRTQAVAGGVRGAARGAAGQRDYDLLVVGGGSGGLACAKEAAQLGRKVAVVDYVEPSPQGTRWG
LGGTCVNVGCIPKKLMHQAALLGGLIQDAPNYGWEVAQPVPHDWRKMAEAVQNHVKSLNWGHRVQLQDRKVKYFNIKASF
VDEHTVCGVAKGGKEILLSADHIIIATGGRPRYPTHIEGALEYGITSDDIFWLKESPGKTLVVGASYVALECAGFLTGIG
LDTTIMMRSIPLRGFDQQMSSMVIEHMASHGTRFLRGCAPSRVRRLPDGQLQVTWEDSTTGKEDTGTFDTVLWAIGRVPD
TRSLNLEKAGVDTSPDTQKILVDSREATSVPHIYAIGDVVEGRPELTPIAIMAGRLLVQRLFGGSSDLMDYDNVPTTVFT
PLEYGCVGLSEEEAVARHGQEHVEVYHAHYKPLEFTVAGRDASQCYVKMVCLREPPQLVLGLHFLGPNAGEVTQGFALGI
KCGASYAQVMRTVGIHPTCSEEAVKLRISKRSGLDPTVTGC*G*

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

Gene Symbol:TXNRD2
Accession:NM_001352303
Location:INTRON

Gene Symbol:TXNRD2
Accession:NM_001282512
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000254150 CLINVAR
dbSNP (RS) rs769258408 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene TXNRD2 CLINVAR
OMIM 606448 CLINVAR