rs138176282 Rat Genome Database

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Variant: rs138176282 -  Homo sapiens

RGD ID: 15191785
RS ID: rs138176282
ClinVar ID: CV729546
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBLL2  PTCHD1-AS  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 22,291,206
GRCh38 X 22,273,089
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152577.4:c.98T>A
NG_021438.1:g.5147T>A
NC_000023.11:g.22273089T>A
NC_000023.10:g.22291206T>A
More... 		04/04/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CBLL2
Accession:NM_152577
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKMPAGEQECEYNKEGKYYSKGVKLVRKKKKNPGYRWGDIKINIIGEKDDLPIHFCDKCDLPIKIYGRIIPCKHAFCYH
CANLYDKVGYKVCPRCRYPVLRIEAHKRGSVFMCSIVQQCKRTYLSQKSLQAHIKRRHKRARKQVTSASLEKVRPHIAPP
QTEISDIPKRLQDRDHLSYIPPEQHTMVSLPSVQHMLQEQHNQPHKDIQAPPPELSLSLPFPIQWETVSIFTRKHGNLTV
DHIQNNSDSGAKKPTPPDYYPECQSQPAVSSPHHIIPQKQHYAPPPSPSSPVNHQMPYPPQDVVTPNSVRSQVPALTTTY
DPSSGYIIVKVPPDMNSPPLRAPQSQNGNPSASEFASHHYNLNILPQFTENQETLSPQFTQTDAMDHRRWPAWKRLSPCP
PTRSPPPSTLHGRSHHSHQRRHRRY*

Gene Symbol:PTCHD1-AS
Accession:NR_073010
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000888478 CLINVAR
dbSNP (RS) rs138176282 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CBLL2 CLINVAR
  PTCHD1-AS CLINVAR