RGD:8644982 Rat Genome Database

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Variant: RGD:8644982 -  Homo sapiens

RGD ID: 8644982
RS ID: rs367543194
ClinVar ID: CV104389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124904025  PPP1R9B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 48,226,832
GRCh38 17 50,149,467
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.50149467T>C
NC_000017.10:g.48226832T>C
NP_115984.3:p.Gln349=
NM_032595.5:c.1047A>G
More... 		synonymous variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:PPP1R9B
Accession:NM_032595
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMKTEPRGPGGPLRSASPHRSAYEAGIQALKPPDAPGPDEAPKGAHHKKYGSNVHRIKSMFLQMGTTAGPSGEAGGGAGL
AEAPRASERGVRLSLPRASSLNENVDHSALLKLGTSVSERVSRFDSKPAPSAQPAPPPHPPSRLQETRKLFERSAPAAAG
GDKEAAARRLLRQERAGLQDRKLDVVVRFNGSTEALDKLDADAVSPTVSQLSAVFEKADSRTGLHRGPGLPRAAGVPQVN
SKLVSKRSRVFQPPPPPPPAPSGDAPAEKERCPAGQQPPQHRVAPARPPPKPREVRKIKPVEVEESGESEAESAPGEVIQ
AEVTVHAALENGSTVATAASPAPEEPKAQAAPEKEAAAVAPPERGVGNGRAPDVAPEEVDESKKEDFSEADLVDVSAYSG
LGEDSAGSALEEDDEDDEEDGEPPYEPESGCVEIPGLSEEEDPAPSRKIHFSTAPIQVFSTYSNEDYDRRNEDVDPMAAS
AEYELEKRVERLELFPVELEKDSEGLGISIIGMGAGADMGLEKLGIFVKTVTEGGAAHRDGRIQVNDLLVEVDGTSLVGV
TQSFAASVLRNTKGRVRFMIGRERPGEQSEVAQLIQQTLEQERWQREMMEQRYAQYGEDDEETGEYATDEDEELSPTFPG
GEMAIEVFELAENEDALSPVDMEPEKLVHKFKELQIKHAVTEAEIQQLKRKLQSLEQEKGRWRVEKAQLEQSVEENKERM
EKLEGYWGEAQSLCQAVDEHLRETQAQYQALERKYSKAKRLIKDYQQKEIEFLKKETAQRRVLEESELARKEEMDKLLDK
ISELEGNLQTLRNSNST*

Gene Symbol:LOC124904025
Accession:XR_007065841
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000084787 CLINVAR
dbSNP (RS) rs367543194 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PPP1R9B CLINVAR
OMIM 603325 CLINVAR