RGD:38494506 Rat Genome Database

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Variant: RGD:38494506 -  Homo sapiens

RGD ID: 38494506
RS ID: rs201211935
ClinVar ID: CV952049
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PEX11B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 145,522,566
GRCh38 1 145,912,514
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_073492.2:n.446C>T
NR_073491.2:n.452C>T
NC_000001.11:g.145912514G>A
NM_001184795.1:c.385C>T
More... 		11/04/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PEX11B
Accession:NM_003846
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAWVRFSAQSQARERLCRAAQYACSLLGHALQRHGASPELQKQIRQLESHLSLGRKLLRLGNSADALESAKRAVHLSDV
VLRFCITVSHLNRALYFACDNVLWAGKSGLAPRVDQEKWAQRSFRYYLFSLIMNLSRDAYEISLLMEQESSACSRRLKGS
GGGVPGGSETGGLGGPGTPGGGLPQLALKLRLQVLLLARVLRGHPPLLLDVVRNACDLFIPLDKLGLWRCGPGIVGLCGL
VSSILSILTLIYPWLRLKP*

Gene Symbol:PEX11B
Accession:NM_001184795
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKLRAAQYACSLLGHALQRHGASPELQKQIRQLESHLSLGRKLLRLGNSADALESAKRAVHLSDVVLRFCITVSHLNRA
LYFACDNVLWAGKSGLAPRVDQEKWAQRSFRYYLFSLIMNLSRDAYEISLLMEQESSACSRRLKGSGGGVPGGSETGGLG
GPGTPGGGLPQLALKLRLQVLLLARVLRGHPPLLLDVVRNACDLFIPLDKLGLWRCGPGIVGLCGLVSSILSILTLIYPW
LRLKP*

Gene Symbol:PEX11B
Accession:NR_073492
Location:EXON;NON-CODING

Gene Symbol:PEX11B
Accession:NR_073491
Location:EXON;NON-CODING

Gene Symbol:PEX11B
Accession:NR_073493
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001241352 CLINVAR
dbSNP (RS) rs201211935 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PEX11B CLINVAR
OMIM 603867 CLINVAR