RGD:156286705 Rat Genome Database

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Variant: RGD:156286705 -  Homo sapiens

RGD ID: 156286705
ClinVar ID: CV2288326
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NEU2  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 233,899,418
GRCh38 2 233,034,708
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005383.2:c.794T>A
NC_000002.12:g.233034708T>A
NC_000002.11:g.233899418T>A
NP_005374.2:p.Val265Glu
 07/08/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NEU2
Accession:NM_005383
Location:EXON
Amino Acid Prediction: V to E (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLPVLQKESVFQSGAHAYRIPALLYLPGQQSLLAFAEQRASKKDEHAELIVLRRGDYDAPTHQVQWQAQEVVAQARLD
GHRSMNPCPLYDAQTGTLFLFFIAIPGQVTEQQQLQTRANVTRLCQVTSTDHGRTWSSPRDLTDAAIGPAYREWSTFAVG
PGHCLQLHDRARSLVVPAYAYRKLHPIQRPIPSAFCFLSHDHGRTWARGHFVAQDTLECQVAEVETGEQRVVTLNARSHL
RARVQAQSTNDGLDFQESQLVKKLEEPPPQGCQGSVISFPSPRSGPGSPAQWLLYTHPTHSWQRADLGAYLNPRPPAPEA
WSEPVLLAKGSCAYSDLQSMGTGPDGSPLFGCLYEANDYEEIVFLMFTLKQAFPAEYLPQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004150097 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NEU2 CLINVAR
OMIM 605528 CLINVAR