RGD:38597591 Rat Genome Database

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Variant: RGD:38597591 -  Homo sapiens

RGD ID: 38597591
RS ID: rs1374125665
ClinVar ID: CV892067
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE6B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 664,507
GRCh38 4 670,718
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145292.2:c.*611G>A
NM_001350154.3:c.*504G>A
NM_001350155.3:c.*504G>A
NM_001379246.1:c.*611G>A
More... 		01/13/2018 3 prime utr variant uncertain significance NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PDE6B
Accession:NM_000283
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:NM_001145291
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:XM_047415777
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:XM_011513473
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:XM_047415776
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:NM_001350154
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:XM_047415775
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:NM_001145292
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:NM_001379246
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:NM_001350155
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:NM_001379247
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:XM_047415773
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:XM_047415772
Location:3UTRS;EXON

Gene Symbol:PDE6B
Accession:XM_047415774
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 1009

TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVL
RRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF
SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL
WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYV
LHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVAT
FYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC
DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR
HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEE
TLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLS
AITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYK*AQKFAMAAQHPSLQP
AVSCEHWSHGDPMAPSIFTH*DLGSACGYLLQEVRKPKKMTEDHSGYFNFFFFFFLRWSLALSPRLECRGTISAHCNLHL
PGSSDSRASAS*VAGTTGAHHHTWLIFVFSVQMGFHHIGQAGLELLTSGDHPPQLPEVLGLQA*ATTPSLFL*TEANCE*
TVAYITHPFLDSYHWETFEKGP*TLKSLRTFAATHVHMCTQVDRWTQAISHPV*ENTHAQEFRIK*TEN
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001253985 CLINVAR
  RCV001253986 CLINVAR
dbSNP (RS) rs1374125665 CLINVAR
MedGen C0035334 CLINVAR
  C1876182 CLINVAR
NCBI Gene PDE6B CLINVAR
OMIM 163500 CLINVAR
  180072 CLINVAR
  268000 CLINVAR
SNOMED CT 28835009 CLINVAR