RGD:28873067 Rat Genome Database

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Variant: RGD:28873067 -  Homo sapiens

RGD ID: 28873067
RS ID: rs940225352
ClinVar ID: CV888347
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCHE  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 165,503,950
GRCh38 3 165,786,162
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000055.4:c.1667A>T
NG_009031.1:g.56304A>T
NC_000003.12:g.165786162T>A
NC_000003.11:g.165503950T>A
More... 		01/12/2018 missense variant uncertain significance Acholinesterasemia; Acylcholine acylhydrolase deficiency; BCHE deficiency; BCHE, silent 1; Butyrylcholinesterase deficiency; CHE1 deficiency; Deficiency of butyrylcholine esterase; Pseudocholinesterase E1 deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCHE
Accession:NM_000055
Location:EXON
Amino Acid Prediction: K to I (nonsynonymous)
Amino Acid Position: 556
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIPYAQPPLGRLRFKKPQSLTKW
SDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDCLYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKF
LARVERVIVVSMNYRVGALGFLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGESAGAASVSLHLLSPG
SHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEILLNEAFVVPYGTPLSVNFGP
TVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVYGAPGFSKDNNSIITRKEFQEGLKIFFPGVSEFGKESILFH
YTDWVDDQRPENYREALGDVVGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLER
RDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMTKLRAQQCRFWTSFFPIVLEM
TGNIDEAEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCVGL*

Gene Symbol:BCHE
Accession:NR_137635
Location:EXON;NON-CODING

Gene Symbol:BCHE
Accession:NR_137636
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001146598 CLINVAR
dbSNP (RS) rs940225352 CLINVAR
MedGen C1283400 CLINVAR
NCBI Gene BCHE CLINVAR
OMIM 177400 CLINVAR
  617936 CLINVAR
SNOMED CT 360619001 CLINVAR