RGD:156262898 Rat Genome Database

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Variant: RGD:156262898 -  Homo sapiens

RGD ID: 156262898
ClinVar ID: CV2329325
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SOD2  WTAP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 160,176,242
GRCh38 6 159,755,210
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.-336+5827C>T
NM_001270531.2:c.790G>A
NM_004906.5:c.790G>A
NG_008729.4:g.12071C>T
More...
12/27/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SOD2
Accession:NM_001322817
Location:5UTRS;INTRON

Gene Symbol:WTAP
Accession:NM_004906
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRL
ATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLKMKGELEQTKDKLEQAQNELSAWKFTPDSQTGKKLMAK
CRMLIQENQELGRQLSQGRIAQLEAELALQKKYSEELKSSQDELNDFIIQLDEEVEGMQSTILVLQQQLKETRQQLAQYQ
QQQSQASAPSTSRTTASEPVEQSKATSKDCSRLTNGPSNGSSSRQRTSGSGFHREGNTTEDDFPSSPGNGNKSSNSSEER
TGRGGSGYVNQLSAGYESVDSPTGSENSLTHQSNDTDSSHDPQEEKAVSGKGNRTVGSRHVQNGLDSSVNVQGSVL*

Gene Symbol:WTAP
Accession:NM_001270531
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRL
ATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLKMKGELEQTKDKLEQAQNELSAWKFTPDSQTGKKLMAK
CRMLIQENQELGRQLSQGRIAQLEAELALQKKYSEELKSSQDELNDFIIQLDEEVEGMQSTILVLQQQLKETRQQLAQYQ
QQQSQASAPSTSRTTASEPVEQSKATSKDCSRLTNGPSNGSSSRQRTSGSGFHREGNTTEDDFPSSPGNGNKSSNSSEER
TGRGGSGYVNQLSAGYESVDSPTGSENSLTHQSNDTDSSHDPQEEKAVSGKGNRTVGSRHVQNGLDSSVNVQGSVL*

Gene Symbol:WTAP
Accession:XM_017011514
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 281
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRGKASVSKFSKLTGFKMTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLK
QQQQESARRENILVMRLATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLKMKGELEQTKDKLEQAQNELS
AWKFTPDSQTGKKLMAKCRMLIQENQELGRQLSQGRIAQLEAELALQKKYSEELKSSQDELNDFIIQLDEEVEGMQSTIL
VLQQQLKETRQQLAQYQQQQSQASAPSTSRTTASEPVEQSKATSKDCSRLTNGPSNGSSSRQRTSGSGFHREGNTTEDDF
PSSPGNGNKSSNSSEERTGRGGSGYVNQLSAGYESVDSPTGSENSLTHQSNDTDSSHDPQEEKAVSGKGNRTVGSRHVQN
GLDSSVNVQGSVL*

Gene Symbol:WTAP
Accession:XM_017011515
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRLATKEQEMQECTTQIQYLKQVQQPSVAQ
LRSTMVDPAINLFFLKMKGELEQTKDKLEQAQNELSAWKFTPDSQTGKKLMAKCRMLIQENQELGRQLSQGRIAQLEAEL
ALQKKYSEELKSSQDELNDFIIQLDEEVEGMQSTILVLQQQLKETRQQLAQYQQQQSQASAPSTSRTTASEPVEQSKATS
KDCSRLTNGPSNGSSSRQRTSGSGFHREGNTTEDDFPSSPGNGNKSSNSSEERTGRGGSGYVNQLSAGYESVDSPTGSEN
SLTHQSNDTDSSHDPQEEKAVSGKGNRTVGSRHVQNGLDSSVNVQGSVL*

Gene Symbol:WTAP
Accession:XM_047419578
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTNEEPLPKKVRLSETDFKVMARDELILRWKQYEAYVQALEGKYTDLNSNDVTGLRESEEKLKQQQQESARRENILVMRL
ATKEQEMQECTTQIQYLKQVQQPSVAQLRSTMVDPAINLFFLKMKGELEQTKDKLEQAQNELSAWKFTPDSQTGKKLMAK
CRMLIQENQELGRQLSQGRIAQLEAELALQKKYSEELKSSQDELNDFIIQLDEEVEGMQSTILVLQQQLKETRQQLAQYQ
QQQSQASAPSTSRTTASEPVEQSKATSKDCSRLTNGPSNGSSSRQRTSGSGFHREGNTTEDDFPSSPGNGNKSSNSSEER
TGRGGSGYVNQLSAGYESVDSPTGSENSLTHQSNDTDSSHDPQEEKAVSGKGNRTVGSRHVQNGLDSSVNVQGSVL*

Gene Symbol:SOD2
Accession:NM_001024466
Location:INTRON

Gene Symbol:SOD2
Accession:NM_001024465
Location:INTRON

Gene Symbol:SOD2
Accession:NM_000636
Location:INTRON

Gene Symbol:WTAP
Accession:NM_152858
Location:INTRON

Gene Symbol:WTAP
Accession:NM_152857
Location:INTRON

Gene Symbol:WTAP
Accession:NM_001270532
Location:INTRON

Gene Symbol:WTAP
Accession:NM_001270533
Location:INTRON

Gene Symbol:SOD2
Accession:NM_001322819
Location:INTRON

Gene Symbol:SOD2
Accession:NM_001322820
Location:INTRON

Gene Symbol:SOD2
Accession:NM_001322814
Location:INTRON

Gene Symbol:SOD2
Accession:NM_001322815
Location:INTRON

Gene Symbol:SOD2
Accession:NM_001322816
Location:INTRON

Gene Symbol:WTAP
Accession:XM_017011516
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002959858 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SOD2 CLINVAR
  WTAP CLINVAR
OMIM 147460 CLINVAR
  605442 CLINVAR