RGD:28888667 Rat Genome Database

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Variant: RGD:28888667 -  Homo sapiens

RGD ID: 28888667
RS ID: rs2068639281
ClinVar ID: CV903164
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UBQLN2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 56,592,164
GRCh38 X 56,565,731
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_665t1:c.1858G>C
NC_000023.10:g.56592164G>C
NM_013444.4:c.1858G>C
NP_038472.2:p.Gly620Arg
More... 		01/13/2018 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: G to R (nonsynonymous)
Amino Acid Position: 620
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAENGESSGPPRPSRGPAAAQGSAAAPAEPKIIKVTVKTPKEKEEFAVPENSSVQQFKEAISKRFKSQTDQLVLIFAGKI
LKDQDTLIQHGIHDGLTVHLVIKSQNRPQGQSTQPSNAAGTNTTSASTPRSNSTPISTNSNPFGLGSLGGLAGLSSLGLS
STNFSELQSQMQQQLMASPEMMIQIMENPFVQSMLSNPDLMRQLIMANPQMQQLIQRNPEISHLLNNPDIMRQTLEIARN
PAMMQEMMRNQDLALSNLESIPGGYNALRRMYTDIQEPMLNAAQEQFGGNPFASVGSSSSSGEGTQPSRTENRDPLPNPW
APPPATQSSATTSTTTSTGSGSGNSSSNATGNTVAAANYVASIFSTPGMQSLLQQITENPQLIQNMLSAPYMRSMMQSLS
QNPDLAAQMMLNSPLFTANPQLQEQMRPQLPAFLQQMQNPDTLSAMSNPRAMQALMQIQQGLQTLATEAPGLIPSFTPGV
GVGVLGTAIGPVGPVTPIGPIGPIVPFTPIGPIGPIGPTGPAAPPGSTGSGGPTGPTVSSAAPSETTSPTSESGPNQQFI
QQMVQALAGANAPQLPNPEVRFQQQLEQLNAMGFLNREANLQALIATGGDINAAIERLLRSQPS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001169693 CLINVAR
dbSNP (RS) rs2068639281 CLINVAR
MedGen C3275459 CLINVAR
NCBI Gene UBQLN2 CLINVAR
OMIM 300264 CLINVAR
  300857 CLINVAR