RGD:21405978 Rat Genome Database

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Variant: RGD:21405978 -  Homo sapiens

RGD ID: 21405978
RS ID: rs2280855
ClinVar ID: CV799535
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSR  LOC130000170  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 30,585,092
GRCh38 8 30,727,575
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195104.3:c.261T>C
NM_000637.5:c.261T>C
NP_000628.2:p.Gly87=
NP_001182031.1:p.Gly87=
More... 		11/03/2021 synonymous variant benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GSR
Accession:NM_001195102
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMACRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASA
RRAAELGARAAVVESHKLGGTCVNVGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQN
NLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGASLGITSDGFFQLEELPGRSVIVGAG
YIAVEMAGILSALGSKTSLMIRHDKVKEVKKTLSGLEVSMVTAVPGRLPVMTMIPDVDCLLWAIGRVPNTKDLSLNKLGI
QTDDKGHIIVDEFQNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEYKEDSKLDYNNIPTVVFSHPPIGTVGLTED
EAIHKYGIENVKTYSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHMQGLGCDEMLQGFAVAVKMGATKADFDNTVA
IHPTSSEELVTLR*

Gene Symbol:GSR
Accession:NM_001195104
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMACRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASA
RRAAELGARAAVVESHKLGGTCVNVGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQN
NLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGASLGITSDGFFQLEELPGRSVIVGAG
YIAVEMAGILSALGSKTSLMIRHDKGIQTDDKGHIIVDEFQNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEYKE
DSKLDYNNIPTVVFSHPPIGTVGLTEDEAIHKYGIENVKTYSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHMQGL
GCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEELVTLR*

Gene Symbol:GSR
Accession:NM_001195103
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMACRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASA
RRAAELGARAAVVESHKLGGTCVNVGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQN
NLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGASLGITSDGFFQLEELPGRSVIVGAG
YIAVEMAGILSALGSKTSLMIRHDKVLRSFDSMISTNCTEELENAGVEVLKFSQGIQTDDKGHIIVDEFQNTNVKGIYAV
GDVCGKALLTPVAIAAGRKLAHRLFEYKEDSKLDYNNIPTVVFSHPPIGTVGLTEDEAIHKYGIENVKTYSTSFTPMYHA
VTKRKTKCVMKMVCANKEEKVVGIHMQGLGCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEELVTLR*

Gene Symbol:GSR
Accession:NM_000637
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMACRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASA
RRAAELGARAAVVESHKLGGTCVNVGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQN
NLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGASLGITSDGFFQLEELPGRSVIVGAG
YIAVEMAGILSALGSKTSLMIRHDKVLRSFDSMISTNCTEELENAGVEVLKFSQVKEVKKTLSGLEVSMVTAVPGRLPVM
TMIPDVDCLLWAIGRVPNTKDLSLNKLGIQTDDKGHIIVDEFQNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEY
KEDSKLDYNNIPTVVFSHPPIGTVGLTEDEAIHKYGIENVKTYSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHMQ
GLGCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEELVTLR*

Gene Symbol:GSR
Accession:XM_047421727
Location:INTRON

Gene Symbol:GSR
Accession:XM_047421728
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001001593 CLINVAR
  RCV001713060 CLINVAR
  RCV003973019 CLINVAR
dbSNP (RS) rs2280855 CLINVAR
MedGen C3661900 CLINVAR
  C5231513 CLINVAR
NCBI Gene GSR CLINVAR
  LOC130000170 CLINVAR
OMIM 138300 CLINVAR
  618660 CLINVAR