RGD:28882147 Rat Genome Database

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Variant: RGD:28882147 -  Homo sapiens

RGD ID: 28882147
RS ID: rs779133675
ClinVar ID: CV903163
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UBQLN2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 56,591,337
GRCh38 X 56,564,904
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013444.4:c.1031A>G
LRG_665:g.6312A>G
NC_000023.10:g.56591337A>G
NM_013444.3:c.1031A>G
More... 		01/12/2018 missense variant uncertain significance AMYOTROPHIC LATERAL SCLEROSIS 15 WITH FRONTOTEMPORAL DEMENTIA; Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UBQLN2
Accession:NM_013444
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 344
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAENGESSGPPRPSRGPAAAQGSAAAPAEPKIIKVTVKTPKEKEEFAVPENSSVQQFKEAISKRFKSQTDQLVLIFAGKI
LKDQDTLIQHGIHDGLTVHLVIKSQNRPQGQSTQPSNAAGTNTTSASTPRSNSTPISTNSNPFGLGSLGGLAGLSSLGLS
STNFSELQSQMQQQLMASPEMMIQIMENPFVQSMLSNPDLMRQLIMANPQMQQLIQRNPEISHLLNNPDIMRQTLEIARN
PAMMQEMMRNQDLALSNLESIPGGYNALRRMYTDIQEPMLNAAQEQFGGNPFASVGSSSSSGEGTQPSRTENRDPLPNPW
APPPATQSSATTSTTTSTGSGSGSSSSNATGNTVAAANYVASIFSTPGMQSLLQQITENPQLIQNMLSAPYMRSMMQSLS
QNPDLAAQMMLNSPLFTANPQLQEQMRPQLPAFLQQMQNPDTLSAMSNPRAMQALMQIQQGLQTLATEAPGLIPSFTPGV
GVGVLGTAIGPVGPVTPIGPIGPIVPFTPIGPIGPIGPTGPAAPPGSTGSGGPTGPTVSSAAPSETTSPTSESGPNQQFI
QQMVQALAGANAPQLPNPEVRFQQQLEQLNAMGFLNREANLQALIATGGDINAAIERLLGSQPS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001167823 CLINVAR
dbSNP (RS) rs779133675 CLINVAR
MedGen C3275459 CLINVAR
NCBI Gene UBQLN2 CLINVAR
OMIM 300264 CLINVAR
  300857 CLINVAR