RGD:151798529 Rat Genome Database

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Variant: RGD:151798529 -  Homo sapiens

RGD ID: 151798529
RS ID: rs2102036234
ClinVar ID: CV1503942
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 150,325,394
GRCh38 1 150,352,918
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.1586A>G
NM_004698.4:c.1991A>G
NG_008245.1:g.36467A>G
NC_000001.11:g.150352918A>G
More... 		09/14/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PRPF3
Accession:NM_004698
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 664
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRSSRHSK
SSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQL
SFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGI
APPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPS
QRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFD
LTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLMPPPEPKVRISN
LMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKI
EANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEGTAKD
RSFGEMKFKQCPTENMAREHFKKRGAEHYWDLALSESVLESTD*

Gene Symbol:PRPF3
Accession:XM_011510130
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 520
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLI
GNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSED
MESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDI
PEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKV
RLGLMPPPEPKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHIS
VYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAV
KKTNKCVLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKRGAEHYWDLALSESVLESTD*

Gene Symbol:PRPF3
Accession:NM_001350529
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 529
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTKLQIKQMMEAATRQIEERKKQLSFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQA
QLALKPGLIGNANMVGLANLHAMGIAPPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQ
QLKEKPSEDMESNTFFDPRVSIAPSQRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAP
KKELKEGDIPEIEWWDSYIIPNGFDLTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRRE
AQKELQEKVRLGLMPPPEPKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKE
DISQGVHISVYRVRNLSNPAKKFKIEANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDD
DEESDEEAVKKTNKCVLVWEGTAKDRSFGEMKFKQCPTENMAREHFKKRGAEHYWDLALSESVLESTD*

Gene Symbol:PRPF3
Accession:XM_047433995
Location:EXON
Amino Acid Prediction: H to R (nonsynonymous)
Amino Acid Position: 664
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALSKRELDELKPWIEKTVKRVLGFSEPTVVTAALNCVGKGMDKKKAADHLKPFLDDSTLRFVDKLFEAVEEGRSSRHSK
SSSDRSRKRELKEVFGDDSEISKESSGVKKRRIPRFEEVEEEPEVIPGPPSESPGMLTKLQIKQMMEAATRQIEERKKQL
SFISPPTPQPKTPSSSQPERLPIGNTIQPSQAATFMNDAIEKARKAAELQARIQAQLALKPGLIGNANMVGLANLHAMGI
APPKVELKDQTKPTPLILDEQGRTVDATGKEIELTHRMPTLKANIRAVKREQFKQQLKEKPSEDMESNTFFDPRVSIAPS
QRQRRTFKFHDKGKFEKIAQRLRTKAQLEKLQAEISQAARKTGIHTSTRLALIAPKKELKEGDIPEIEWWDSYIIPNGFD
LTEENPKREDYFGITNLVEHPAQLNPPVDNDTPVTLGVYLTKKEQKKLRRQTRREAQKELQEKVRLGLMPPPEPKVRISN
LMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEANAARKLTAEQRKVKKIKKLKEDISQGVHISVYRVRNLSNPAKKFKI
EANAGQLYLTGVVVLHKDVNVVVVEGGPKAQKKFKRLMLHRIKWDEQTSNTKGDDDEESDEEAVKKTNKCVLVWEGTAKD
RSFGEMKFKQCPTENMAREHFKKRGAEHYWDLALSESVLESTD*

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

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

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

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

Gene Symbol:PRPF3
Accession:XM_011510132
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_047434009
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_011510131
Location:INTRON

Gene Symbol:PRPF3
Accession:XM_017002791
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 RCV001973691 CLINVAR
dbSNP (RS) rs2102036234 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PRPF3 CLINVAR
OMIM 607301 CLINVAR