RGD:15108065 Rat Genome Database

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Variant: RGD:15108065 -  Homo sapiens

RGD ID: 15108065
RS ID: rs138976782
ClinVar ID: CV745661
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 150,325,407
GRCh38 1 150,352,931
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001350529.1:c.1599C>T
NM_004698.4:c.2004C>T
NG_008245.1:g.36480C>T
NC_000001.10:g.150325407C>T
More... 		03/29/2018 non-coding transcript variant benign|likely benign none provided; 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:PRPF3
Accession:NM_004698
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 668
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRSSRHSK
SSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQL
SFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGI
APPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPS
QRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFD
LTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLMPPPEPKVRISN
LMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKI
EANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEGTAKD
RSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALSESVLESTD*

Gene Symbol:PRPF3
Accession:XM_047433995
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 668
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRSSRHSK
SSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQL
SFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGI
APPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPS
QRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFD
LTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLMPPPEPKVRISN
LMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKI
EANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEGTAKD
RSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALSESVLESTD*

Gene Symbol:PRPF3
Accession:XM_011510130
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 524
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLI
GNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSED
MESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDI
PEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKV
RLGLMPPPEPKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHIS
VYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAV
KKTNKCVLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALSESVLESTD*

Gene Symbol:PRPF3
Accession:NM_001350529
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTKLQIKQMMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQA
QLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQ
QLKEKPSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAP
KKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRRE
AQKELQEKVRLGLMPPPEPKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKE
DISQGVHISVYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDD
DEESDEEAVKKTNKCVLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKHGAEHYWDLALSESVLESTD*

Gene Symbol:PRPF3
Accession:NR_146769
Location:EXON;NON-CODING

Gene Symbol:PRPF3
Accession:NR_146766
Location:EXON;NON-CODING

Gene Symbol:PRPF3
Accession:NR_146768
Location:EXON;NON-CODING

Gene Symbol:PRPF3
Accession:NR_146767
Location:EXON;NON-CODING

Gene Symbol:PRPF3
Accession:XM_011510131
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_011510132
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_017002791
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_047434009
Location:INTRON

Gene Symbol:PRPF3
Accession:XR_007064873
Location:INTRON;NON-CODING

Gene Symbol:PRPF3
Accession:XR_007064872
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000916073 CLINVAR
  RCV001097139 CLINVAR
dbSNP (RS) rs138976782 CLINVAR
MedGen C0035334 CLINVAR
  C3661900 CLINVAR
NCBI Gene PRPF3 CLINVAR
OMIM 268000 CLINVAR
  607301 CLINVAR
SNOMED CT 28835009 CLINVAR