RGD:13836873 Rat Genome Database

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Variant: RGD:13836873 -  Homo sapiens

RGD ID: 13836873
RS ID: rs764635164
ClinVar ID: CV588156
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEUROD1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 182,543,074
GRCh38 2 181,678,347
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002500.5:c.514C>T
NP_002491.3:p.Leu172Phe
NG_011820.2:g.7318C>T
NC_000002.12:g.181678347G>A
More...
07/12/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NEUROD1
Accession:NM_002500
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTKSYSESGLMGEPQPQGPPSWTDECLSSQDEEHEADKKEDDLETMNAEEDSLRNGGEEEDEDEDLEEEEEEEEEDDDQK
PKRRGPKKKKMTKARLERFKLRRMKANARERNRMHGLNAALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRSG
KSPDLVSFVQTFCKGLSQPTTNLVAGCLQLNPRTFLPEQNQDMPPHLPTASASFPVHPYSYQSPGLPSPPYGTMDSSHVF
HVKPPPHAYSAALEPFFESPLTDCTSPSFDGPLSPPLSINGNFSFKHEPSAEFEKNYAFTMHYPAATLAGAQSHGSIFSG
TAAPRCEIPIDNIMSFDSHSHHERVMSAQLNAIFHD*

Gene Symbol:NEUROD1
Accession:NR_146176
Location:INTRON;NON-CODING

Gene Symbol:NEUROD1
Accession:NR_146175
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000733114 CLINVAR
dbSNP (RS) rs764635164 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NEUROD1 CLINVAR
OMIM 601724 CLINVAR