rs2133227148 Rat Genome Database

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Variant: rs2133227148 -  Homo sapiens

RGD ID: 151234014
RS ID: rs2133227148
ClinVar ID: CV1318010
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEUROG3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 71,332,516
GRCh38 10 69,572,760
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_020999.4:c.284G>C
NG_021321.1:g.5695G>C
NC_000010.11:g.69572760C>G
NP_066279.2:p.Arg95Pro
More... 		missense variant pathogenic ENTERIC ANENDOCRINOSIS
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1318010Humancongenital malabsorptive diarrhea 4  IAGP 8554872ClinVar Annotator: match by term: Diarrhea 4 more ...ClinVarPMID:25741868
Gene Symbol:NEUROG3
Accession:NM_020999
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQ
RRSRRKKANDRERNPMHNLNSALDALRGVLPTFPDDAKLTKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELG
SPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL*

Gene Symbol:NEUROG3
Accession:XM_017016280
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQ
RRSRRKKANDRERNPMHNLNSALDALRGVLPTFPDDAKLTKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELG
SPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL*
.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001789609 CLINVAR
dbSNP (RS) rs2133227148 CLINVAR
MedGen C1835888 CLINVAR
NCBI Gene NEUROG3 CLINVAR
OMIM 604882 CLINVAR
  610370 CLINVAR