RGD:28873171 Rat Genome Database

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Variant: RGD:28873171 -  Homo sapiens

RGD ID: 28873171
RS ID: rs146936556
ClinVar ID: CV888351
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCHE  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 165,547,672
GRCh38 3 165,829,884
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009031.1:g.12582A>G
NC_000003.12:g.165829884T>C
NR_137636.2:n.1268A>G
NC_000003.11:g.165547672T>C
More... 		01/13/2018 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: I to V (nonsynonymous)
Amino Acid Position: 384
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHSKVTIICIRFLFWFLLLCMLIGKSHTEDDIIIATKNGKVRGMNLTVFGGTVTAFLGIPYAQPPLGRLRFKKPQSLTKW
SDIWNATKYANSCCQNIDQSFPGFHGSEMWNPNTDLSEDCLYLNVWIPAPKPKNATVLIWIYGGGFQTGTSSLHVYDGKF
LARVERVIVVSMNYRVGALGFLALPGNPEAPGNMGLFDQQLALQWVQKNIAAFGGNPKSVTLFGESAGAASVSLHLLSPG
SHSLFTRAILQSGSFNAPWAVTSLYEARNRTLNLAKLTGCSRENETEIIKCLRNKDPQEILLNEAFVVPYGTPLSVNFGP
TVDGDFLTDMPDILLELGQFKKTQILVGVNKDEGTAFLVYGAPGFSKDNNSIITRKEFQEGLKVFFPGVSEFGKESILFH
YTDWVDDQRPENYREALGDVVGDYNFICPALEFTKKFSEWGNNAFFYYFEHRSSKLPWPEWMGVMHGYEIEFVFGLPLER
RDNYTKAEEILSRSIVKRWANFAKYGNPNETQNNSTSWPVFKSTEQKYLTLNTESTRIMTKLRAQQCRFWTSFFPKVLEM
TGNIDEAEWEWKAGFHRWNNYMMDWKNQFNDYTSKKESCVGL*

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001146602 CLINVAR
dbSNP (RS) rs146936556 CLINVAR
MedGen C1283400 CLINVAR
NCBI Gene BCHE CLINVAR
OMIM 177400 CLINVAR
  617936 CLINVAR
SNOMED CT 360619001 CLINVAR