rs1402976664 Rat Genome Database

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Variant: rs1402976664 -  Homo sapiens

RGD ID: 151867323
RS ID: rs1402976664
ClinVar ID: CV1493514
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CERS1  GDF1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 18,980,169
GRCh38 19 18,869,360
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001387440.1:c.*1217C>T
NM_021267.5:c.*625C>T
NM_001387438.1:c.356C>T
NM_001492.6:c.356C>T
More... 		06/20/2022 3 prime utr variant uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:CERS1
Accession:NM_021267
Location:3UTRS;EXON

Gene Symbol:CERS1
Accession:NM_001387440
Location:3UTRS;EXON

Gene Symbol:GDF1
Accession:NM_001492
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRR
TSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPA*AAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE
GGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL
DPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVL
RALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR*

Gene Symbol:GDF1
Accession:NM_001387438
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRR
TSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPA*AAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE
GGWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL
DPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVL
RALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR*

Gene Symbol:CERS1
Accession:NM_198207
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387443
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001290265
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387441
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387445
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387442
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387439
Location:INTRON

Gene Symbol:CERS1
Accession:NM_001387444
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002473328 CLINVAR
dbSNP (RS) rs1402976664 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CERS1 CLINVAR
  GDF1 CLINVAR
OMIM 602880 CLINVAR
  606919 CLINVAR