RGD:156266208 Rat Genome Database

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Variant: RGD:156266208 -  Homo sapiens

RGD ID: 156266208
ClinVar ID: CV2299393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOD2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 160,113,806
GRCh38 6 159,692,774
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322817.2:c.-26T>A
NM_001322819.2:c.-26T>A
NM_001322820.2:c.-26T>A
NM_000636.4:c.113T>A
More... 		07/26/2022 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOD2
Accession:NM_001322820
Location:5UTRS;EXON

Gene Symbol:SOD2
Accession:NM_001322817
Location:5UTRS;EXON

Gene Symbol:SOD2
Accession:NM_001322819
Location:5UTRS;EXON

Gene Symbol:SOD2
Accession:NM_001322815
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGAQEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTA
QIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMAC
KK*

Gene Symbol:SOD2
Accession:NM_000636
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGAQEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTA
QIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQ
IAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK*

Gene Symbol:SOD2
Accession:NM_001322814
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGAQEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGELLE
AIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPD
YLKAIWNVINWENVTERYMACKK*

Gene Symbol:SOD2
Accession:NM_001024466
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGAQEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGELLE
AIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQIAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPD
YLKAIWNVINWENVTERYMACKK*

Gene Symbol:SOD2
Accession:NM_001024465
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGAQEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGDVTA
QIALQPALKFNGGGHINHSIFWTNLSPNGGGEPKGELLEAIKRDFGSFDKFKEKLTAASVGVQGSGWGWLGFNKERGHLQ
IAACPNQDPLQGTTGLIPLLGIDVWEHAYYLQYKNVRPDYLKAIWNVINWENVTERYMACKK*

Gene Symbol:SOD2
Accession:NM_001322816
Location:EXON
Amino Acid Prediction: L to Q (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRAVCGTSRQLAPVLGYLGSRQKHSLPDLPYDYGAQEPHINAQIMQLHHSKHHAAYVNNLNVTEEKYQEALAKGRFQA
ERREAVPGRGDPREPGPIRTGLSVEENSLRICTGSEFSRHDSLSFKHMVYLIVEGVPRWV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002855736 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SOD2 CLINVAR
OMIM 147460 CLINVAR