rs2128743403 Rat Genome Database

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RGD ID:

151890340

RS ID:

rs2128743403

ClinVar ID:

CV1448103

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GSR

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	30,557,645
GRCh38	8	30,700,128

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_1167t1:c.648C>G NM_000637.5:c.648C>G NM_001195102.3:c.648C>G NM_001195103.3:c.648C>G More...	11/03/2021	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	GSR
Accession:	NM_001195104
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	216

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMACRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASA RRAAELGARAAVVESHKLGGTCVNVGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQN NLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGARLGITSDGFFQLEELPGRSVIVGAG YIAVEMAGILSALGSKTSLMIRHDKGIQTDDKGHIIVDEFQNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEYKE DSKLDYNNIPTVVFSHPPIGTVGLTEDEAIHKYGIENVKTYSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHMQGL GCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEELVTLR*

Gene Symbol:	GSR
Accession:	NM_001195102
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	216

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMACRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASA RRAAELGARAAVVESHKLGGTCVNVGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQN NLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGARLGITSDGFFQLEELPGRSVIVGAG YIAVEMAGILSALGSKTSLMIRHDKVKEVKKTLSGLEVSMVTAVPGRLPVMTMIPDVDCLLWAIGRVPNTKDLSLNKLGI QTDDKGHIIVDEFQNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEYKEDSKLDYNNIPTVVFSHPPIGTVGLTED EAIHKYGIENVKTYSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHMQGLGCDEMLQGFAVAVKMGATKADFDNTVA IHPTSSEELVTLR*

Gene Symbol:	GSR
Accession:	NM_000637
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	216

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMACRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASA RRAAELGARAAVVESHKLGGTCVNVGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQN NLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGARLGITSDGFFQLEELPGRSVIVGAG YIAVEMAGILSALGSKTSLMIRHDKVLRSFDSMISTNCTEELENAGVEVLKFSQVKEVKKTLSGLEVSMVTAVPGRLPVM TMIPDVDCLLWAIGRVPNTKDLSLNKLGIQTDDKGHIIVDEFQNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEY KEDSKLDYNNIPTVVFSHPPIGTVGLTEDEAIHKYGIENVKTYSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHMQ GLGCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEELVTLR*

Gene Symbol:	GSR
Accession:	XM_047421728
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	14

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSTPHESQIPGARLGITSDGFFQLEELPGRSVIVGAGYIAVEMAGILSALGSKTSLMIRHDKVLRSFDSMISTNCTEEL ENAGVEVLKFSQVKEVKKTLSGLEVSMVTAVPGRLPVMTMIPDVDCLLWAIGRVPNTKDLSLNKLGIQTDDKGHIIVDEF QNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEYKEDSKLDYNNIPTVVFSHPPIGTVGLTEDEAIHKYGIENVKT YSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHMQGLGCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEELVTLR *

Gene Symbol:	GSR
Accession:	XM_047421727
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	104

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQNNLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYT APHILIATGGMPSTPHESQIPGARLGITSDGFFQLEELPGRSVIVGAGYIAVEMAGILSALGSKTSLMIRHDKVLRSFDS MISTNCTEELENAGVEVLKFSQVKEVKKTLSGLEVSMVTAVPGRLPVMTMIPDVDCLLWAIGRVPNTKDLSLNKLGIQTD DKGHIIVDEFQNTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEYKEDSKLDYNNIPTVVFSHPPIGTVGLTEDEAI HKYGIENVKTYSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHMQGLGCDEMLQGFAVAVKMGATKADFDNTVAIHP TSSEELVTLR*

Gene Symbol:	GSR
Accession:	NM_001195103
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	216

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAMACRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASA RRAAELGARAAVVESHKLGGTCVNVGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQN NLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGARLGITSDGFFQLEELPGRSVIVGAG YIAVEMAGILSALGSKTSLMIRHDKVLRSFDSMISTNCTEELENAGVEVLKFSQGIQTDDKGHIIVDEFQNTNVKGIYAV GDVCGKALLTPVAIAAGRKLAHRLFEYKEDSKLDYNNIPTVVFSHPPIGTVGLTEDEAIHKYGIENVKTYSTSFTPMYHA VTKRKTKCVMKMVCANKEEKVVGIHMQGLGCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEELVTLR*

Variant Samples

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

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Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
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