RGD:14731001 Rat Genome Database

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Variant: RGD:14731001 -  Homo sapiens

RGD ID: 14731001
RS ID: rs752197558
ClinVar ID: CV641397
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NECAP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 8,248,247
GRCh38 12 8,095,651
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015509.4:c.727A>G
NG_034155.1:g.18441A>G
NC_000012.12:g.8095651A>G
NC_000012.11:g.8248247A>G
More... 		12/21/2018 missense variant uncertain significance Early infantile epileptic encephalopathy 21
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NECAP1
Accession:NM_015509
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATELEYESVLCVKPDVSVYRIPPRASNRGYRASDWKLDQPDWTGRLRITSKGKTAYIKLEDKVSGELFAQAPVEQYPGI
AVETVTDSSRYFVIRIQDGTGRSAFIGIGFTDRGDAFDFNVSLQDHFKWVKQESEISKESQEMDARPKLDLGFKEGQTIK
LCIGNITNKKGGASKPRTARGGGLSLLPPPPGGKVTIPPPSSSVAISNHVTPPPIPKSNHGGSDADILLDLDSPAPVTTP
APAPVSVSNDLWGDFSTASSSVPNQAPQPSNWVQF*

Gene Symbol:NECAP1
Accession:NR_024260
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000817637 CLINVAR
dbSNP (RS) rs752197558 CLINVAR
MedGen C4014430 CLINVAR
NCBI Gene NECAP1 CLINVAR
OMIM 611623 CLINVAR
  615833 CLINVAR