RGD:13208212 Rat Genome Database

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Variant: RGD:13208212 -  Homo sapiens

RGD ID: 13208212
RS ID: rs747265163
ClinVar ID: CV424571
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSTZ1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 77,794,297
GRCh38 14 77,327,954
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_145871.3:c.216+402C>T
NM_145870.3:c.259C>T
NM_145870.2:c.259C>T
NC_000014.9:g.77327954C>T
More... 		04/10/2018 intron variant pathogenic|affects|other BENIGN HYPERSUCCINYLACETONEMIA; HYPERSUCCINYLACETONEMIA, MILD; MAAI DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GSTZ1
Accession:XM_024449551
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKQVPTLKIDGITIHQSLAIIEYLEEMRPTP*LLPQDPKKRASVRMISDLIAGGIQPLQNLSVLKQVGEEMQLTWAQNAI
TCGFNALEQILQSTAGIYCVGDEVTMADLCLVPQVANAERFKVDLTPYPTISSINKRLLVLEAFQVSHPCRQPDTPTELR
A*

Gene Symbol:GSTZ1
Accession:NM_001363703
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 88
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTESGKPILYSYFRSSCSWRVRIALALKGIDYETVPINLIKDGGQQFSKDFQALNPMKQVPTLKIDGITIHQSLAIIEYL
EEMRPTP*LLPQDPKKRASVRMISDLIAGGIQPLQNLSVLKQVGEEMQLTWAQNAITCGFNALEQILQSTAGIYCVGDEV
TMADLCLVPQVANAERFKVDLTPYPTISSINKRLLVLEAFQVSHPCRQPDTPTELRA*

Gene Symbol:GSTZ1
Accession:NM_001312660
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKQVPTLKIDGITIHQSLAIIEYLEEMRPTP*LLPQDPKKRASVRMISDLIAGGIQPLQNLSVLKQVGEEMQLTWAQNAI
TCGFNALEQILQSTAGIYCVGDEVTMADLCLVPQVANAERFKVDLTPYPTISSINKRLLVLEAFQVSHPCRQPDTPTELR
A*

Gene Symbol:GSTZ1
Accession:XM_024449552
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKQVPTLKIDGITIHQSLAIIEYLEEMRPTP*LLPQDPKKRASVRMISDLIAGGIQPLQNLSVLKQVGEEMQLTWAQNAI
TCGFNALEQILQSTAGIYCVGDEVTMADLCLVPQVANAERFKVDLTPYPTISSINKRLLVLEAFQVSHPCRQPDTPTELR
A*

Gene Symbol:GSTZ1
Accession:NM_145870
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAGKPILYSYFRSSCSWRVRIALALKGIDYETVPINLIKDGGQQFSKDFQALNPMKQVPTLKIDGITIHQSLAIIEYLE
EMRPTP*LLPQDPKKRASVRMISDLIAGGIQPLQNLSVLKQVGEEMQLTWAQNAITCGFNALEQILQSTAGIYCVGDEVT
MADLCLVPQVANAERFKVDLTPYPTISSINKRLLVLEAFQVSHPCRQPDTPTELRA*

Gene Symbol:GSTZ1
Accession:NM_145871
Location:INTRON

Gene Symbol:GSTZ1
Accession:XM_011536671
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:27876694  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000496080 CLINVAR
  RCV000727690 CLINVAR
dbSNP (RS) rs747265163 CLINVAR
MedGen C1291607 CLINVAR
  CN517202 CLINVAR
NCBI Gene GSTZ1 CLINVAR
OMIM 603758 CLINVAR
  617596 CLINVAR
OMIM Allele 603758.0002 CLINVAR