rs11557064 Rat Genome Database

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Variant: rs11557064 -  Homo sapiens

RGD ID: 8691977
RS ID: rs11557064
ClinVar ID: CV141943
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPC1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 166,780,349
GRCh38 6 166,366,861
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001376569.1:c.106C>A
NM_001376565.1:c.-24C>A
NM_001376566.1:c.-24C>A
NM_001376567.1:c.-24C>A
More... 		02/22/2016 5 prime utr variant|missense variant|non-coding transcript variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:MPC1
Accession:NM_001376566
Location:5UTRS;EXON

Gene Symbol:MPC1
Accession:NM_001376568
Location:5UTRS;EXON

Gene Symbol:MPC1
Accession:NM_001270879
Location:5UTRS;EXON

Gene Symbol:MPC1
Accession:NM_001376567
Location:5UTRS;EXON

Gene Symbol:MPC1
Accession:NM_001376565
Location:5UTRS;EXON

Gene Symbol:MPC1
Accession:NM_001376569
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGALVRKAADYVRSKDFRDYLMSTHFWGPVANWGIPIAAINDMKKSPEIISGRMTFASELASVCMPRNK*

Gene Symbol:MPC1
Accession:NM_016098
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGALVRKAADYVRSKDFRDYLMSTHFWGPVANWGIPIAAINDMKKSPEIISGRMTFALCCYSLTFMRFAYKVQPRNWLL
FACHATNEVAQLIQGGRLIKHEMTKTASA*

Gene Symbol:MPC1
Accession:NR_164829
Location:EXON;NON-CODING

Gene Symbol:MPC1
Accession:NR_073093
Location:EXON;NON-CODING

Gene Symbol:MPC1
Accession:NR_164830
Location:EXON;NON-CODING

Gene Symbol:MPC1
Accession:NR_164828
Location:EXON;NON-CODING

Gene Symbol:MPC1
Accession:NR_164831
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000126795 CLINVAR
  RCV000676790 CLINVAR
dbSNP (RS) rs11557064 CLINVAR
GWAS Catalog GCST90269573 GWAS Catalog
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MPC1 CLINVAR
OMIM 614738 CLINVAR