RGD:12896233 Rat Genome Database

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Variant: RGD:12896233 -  Homo sapiens

RGD ID: 12896233
RS ID: rs36047130
ClinVar ID: CV389824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE1C  PPP1R17  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 31,732,084
GRCh38 7 31,692,470
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023417.1:g.10454T>G
NC_000007.14:g.31692470T>G
NC_000007.13:g.31732084T>G
NP_006649.2:p.Leu10Arg
More... 		03/29/2016 missense variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PPP1R17
Accession:NM_006658
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSTEQMQPRELSEDRLDKLDPRCSHLDDLSDQFIKDCDLKKKPRKGKNVQATLNVESDQKKPRRKDTPALHIPPFIPGV
FSEHLIKRYDVQERHPKGKMIPVLHNTDLEQKKPRRKDTPALHMSPFAAGVTLLRDERPKAIVEDDEKDGDKIAI*

Gene Symbol:PPP1R17
Accession:NM_001145123
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSTEQMQPRELSEDRLDKLDPRCSHLGVFSEHLIKRYDVQERHPKGKMIPVLHNTDLEQKKPRRKDTPALHMSPFAAGV
TLLRDERPKAIVEDDEKDGDKIAI*

Gene Symbol:PPP1R17
Accession:XM_011515094
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSTEQMQPRELSEDRLDKLDPRCSHLDDLSDQFIKDCDLKKKPRKGKNVQATLNVESDQKKPRRKDTPALHIPPFIPGV
FSEHLIKRYDVQERHPKGKMIPVLHNTDLEQKKPRRKDTPALHMSPFAAGVTLLRDERPKAIVEDDEKDGDKIAI*

Gene Symbol:PPP1R17
Accession:XR_007059983
Location:EXON;NON-CODING

Gene Symbol:PPP1R17
Accession:XR_926912
Location:EXON;NON-CODING

Gene Symbol:PDE1C
Accession:XM_017012265
Location:INTRON

Gene Symbol:PDE1C
Accession:NM_001191059
Location:INTRON

Gene Symbol:PDE1C
Accession:NM_001322058
Location:INTRON

Gene Symbol:PDE1C
Accession:XM_047420443
Location:INTRON

Gene Symbol:PDE1C
Accession:NM_005020
Location:INTRON

Gene Symbol:PDE1C
Accession:XM_047420440
Location:INTRON

Gene Symbol:PDE1C
Accession:NM_001191058
Location:INTRON

Gene Symbol:PDE1C
Accession:XM_017012267
Location:INTRON

Gene Symbol:PDE1C
Accession:XM_047420444
Location:INTRON

Gene Symbol:PDE1C
Accession:XM_017012264
Location:INTRON

Gene Symbol:PDE1C
Accession:XM_017012266
Location:INTRON

Gene Symbol:PDE1C
Accession:XM_047420446
Location:INTRON

Gene Symbol:PDE1C
Accession:NM_001191057
Location:INTRON

Gene Symbol:PDE1C
Accession:XM_047420441
Location:INTRON

Gene Symbol:PDE1C
Accession:NM_001191056
Location:INTRON

Gene Symbol:PDE1C
Accession:NM_001322059
Location:INTRON

Gene Symbol:PDE1C
Accession:XM_047420445
Location:INTRON

Gene Symbol:PDE1C
Accession:NM_001322056
Location:INTRON

Gene Symbol:PDE1C
Accession:NM_001322055
Location:INTRON

Gene Symbol:PDE1C
Accession:NM_001322057
Location:INTRON

Gene Symbol:PDE1C
Accession:XM_047420442
Location:INTRON

Gene Symbol:PDE1C
Accession:XR_007060044
Location:INTRON;NON-CODING

Gene Symbol:PDE1C
Accession:XR_007060043
Location:INTRON;NON-CODING

Gene Symbol:PDE1C
Accession:XR_001744802
Location:INTRON;NON-CODING

Gene Symbol:PDE1C
Accession:XR_007060042
Location:INTRON;NON-CODING

Gene Symbol:PDE1C
Accession:XR_001744803
Location:INTRON;NON-CODING

Gene Symbol:PDE1C
Accession:XR_007060041
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000455073 CLINVAR
dbSNP (RS) rs36047130 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PDE1C CLINVAR
  PPP1R17 CLINVAR
OMIM 602987 CLINVAR
  604088 CLINVAR