RGD:156271188 Rat Genome Database

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Variant: RGD:156271188 -  Homo sapiens

RGD ID: 156271188
ClinVar ID: CV2315683
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887105  MAPT-AS1  SPPL2C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 43,923,381
GRCh38 17 45,846,015
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_175882.3:c.1109C>T
NG_139352.1:g.328C>T
NC_000017.11:g.45846015C>T
NC_000017.10:g.43923381C>T
More... 		11/17/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SPPL2C
Accession:NM_175882
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 370
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MACLGFLLPVGFLLLISTVAGGKYGVAHVVSENWSKDYCILFSSDYITLPRDLHHAPLLPLYDGTKAPWCPGEDSPHQAQ
LRSPSQRPLRQTTAMVMRGNCSFHTKGWLAQGQGAHGLLIVSRVSDQQCSDTTLAPQDPRQPLADLTIPVAMLHYADMLD
ILSHTRGEAVVRVAMYAPPEPIIDYNMLVIFILAVGTVAAGGYWAGLTEANRLQRRRARRGGGSGGHHQLQEAAAAEGAQ
KEDNEDIPVDFTPAMTGVVVTLSCSLMLLLYFFYDHFVYVTIGIFGLGAGIGLYSCLSPLVCRLSLRQYQRPPHSLWASL
PLPLLLLASLCATVIIFWVAYRNEDRWAWLLQDTLGISYCLFVLHRVRLLTLKNCSSFLLALLAFDVFFVFVTPFFTKTG
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 RCV002921108 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene MAPT-AS1 CLINVAR
  SPPL2C CLINVAR
OMIM 608284 CLINVAR