RGD:127307386 Rat Genome Database

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Variant: RGD:127307386 -  Homo sapiens

RGD ID: 127307386
RS ID: rs748624358
ClinVar ID: CV1122916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NECAP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 8,245,491
GRCh38 12 8,092,895
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.516T>C
NG_034155.1:g.15685T>C
NC_000012.12:g.8092895T>C
NC_000012.11:g.8245491T>C
More... 		03/11/2020 non-coding transcript variant likely benign 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: G to G (synonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATELEYESVLCVKPDVSVYRIPPRASNRGYRASDWKLDQPDWTGRLRITSKGKTAYIKLEDKVSGELFAQAPVEQYPGI
AVETVTDSSRYFVIRIQDGTGRSAFIGIGFTDRGDAFDFNVSLQDHFKWVKQESEISKESQEMDARPKLDLGFKEGQTIK
LCIGNITNKKGGASKPRTARGGGLSLLPPPPGGKVTIPPPSSSVAISNHVTPPPIPKSNHGGSDADILLDLDSPAPVTTP
APTPVSVSNDLWGDFSTASSSVPNQAPQPSNWVQF*

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 RCV001455774 CLINVAR
dbSNP (RS) rs748624358 CLINVAR
MedGen C4014430 CLINVAR
NCBI Gene NECAP1 CLINVAR
OMIM 611623 CLINVAR
  615833 CLINVAR