rs969278453 Rat Genome Database

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Variant: rs969278453 -  Homo sapiens

RGD ID: 151869277
RS ID: rs969278453
ClinVar ID: CV1415860
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEUROG3  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 71,332,441
GRCh38 10 69,572,685
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020999.4:c.359C>G
NC_000010.11:g.69572685G>C
NC_000010.10:g.71332441G>C
NP_066279.2:p.Thr120Ser
More... 		08/19/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NEUROG3
Accession:NM_020999
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQ
RRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLSKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELG
SPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL*

Gene Symbol:NEUROG3
Accession:XM_017016280
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQ
RRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLSKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELG
SPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001884930 CLINVAR
dbSNP (RS) rs969278453 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NEUROG3 CLINVAR
OMIM 604882 CLINVAR