RGD:156353852 Rat Genome Database

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Variant: RGD:156353852 -  Homo sapiens

RGD ID: 156353852
ClinVar ID: CV2324156
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887104  MAPT-AS1  SPPL2C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 43,922,333
GRCh38 17 45,844,967
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.43922333G>A
NM_175882.2:c.61G>A
NP_787078.2:p.Gly21Arg
NM_175882.3:c.61G>A
More... 		06/09/2022 missense variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPPL2C
Accession:NM_175882
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFLLPVGFLLLISTVARGKYGVAHVVSENWSKDYCILFSSDYITLPRDLHHAPLLPLYDGTKAPWCPGEDSPHQAQ
LRSPSQRPLRQTTAMVMRGNCSFHTKGWLAQGQGAHGLLIVSRVSDQQCSDTTLAPQDPRQPLADLTIPVAMLHYADMLD
ILSHTRGEAVVRVAMYAPPEPIIDYNMLVIFILAVGTVAAGGYWAGLTEANRLQRRRARRGGGSGGHHQLQEAAAAEGAQ
KEDNEDIPVDFTPAMTGVVVTLSCSLMLLLYFFYDHFVYVTIGIFGLGAGIGLYSCLSPLVCRLSLRQYQRPPHSLWASL
PLPLLLLASLCATVIIFWVAYRNEDRWAWLLQDTLGISYCLFVLHRVRLPTLKNCSSFLLALLAFDVFFVFVTPFFTKTG
ESIMAQVALGPAESSSHERLPMVLKVPRLRVSALTLCSQPFSILGFGDIVVPGFLVAYCCRFDVQVCSRQIYFVACTVAY
AVGLLVTFMAMVLMQMGQPALLYLVSSTLLTSLAVAACRQELSLFWTGQGRAKMCGLGCAPSAGSRQKQEGAADAHTAST
LERGTSRGAGDLDSNPGEDTTEIVTISENEATNPEDRSDSSEGWSDAHLDPNELPFIPPGASEELMPLMPMAMLIPLMPL
MPPPSELGHVHAQAQAHETGLPWAGLHKRKGLKVRKSMSTQAPL*

Gene Symbol:MAPT-AS1
Accession:NR_024559
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002940294 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene MAPT-AS1 CLINVAR
  SPPL2C CLINVAR
OMIM 608284 CLINVAR