rs964021460 Rat Genome Database

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Variant: rs964021460 -  Homo sapiens

RGD ID: 152176123
RS ID: rs964021460
ClinVar ID: CV1562373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPF4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 116,048,557
GRCh38 9 113,286,277
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001322266.2:c.69T>C
NM_001322267.2:c.69T>C
NM_001244926.2:c.795T>C
NM_004697.5:c.798T>C
More... 		11/15/2022 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PRPF4
Accession:NM_001322266
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSFVFDRSGLCKLWSVPDCNLLHTLRGHNTNVGAIVFHPKSTVSLDPKDVNLASCAADGSVKLWSLDSDEPVADIEGHT
VRVARVMWHPSGRFLGTTCYDRSWRLWDLEAQEEILHQEGHSMGVYDIAFHQDGSLAGTGGLDAFGRVWDLRTGRCIMFL
EGHLKEIYGINFSPNGYHIATGSGDNTCKVWDLRQRRCVYTIPAHQNLVTGVKFEPIHGNFLLTGAYDNTAKIWTHPGWS
PLKTLAGHEGKVMGLDISSDGQLIATCSYDRTFKLWMAE*

Gene Symbol:PRPF4
Accession:NM_004697
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSRASSTQATKTKAPDDLVAPVVKKPHIYYGSLEEKERERLAKGESGILGKDGLKAGIEAGNINITSGEVFEIEEHIS
ERQAEVLAEFERRKRARQINVSTDDSEVKACLRALGEPITLFGEGPAERRERLRNILSVVGTDALKKTKKDDEKSKKSKE
EYQQTWYHEGPNSLKVARLWIANYSLPRAMKRLEEARLHKEIPETTRTSQMQELHKSLRSLNNFCSQIGDDRPISYCHFS
PNSKMLATACWSGLCKLWSVPDCNLLHTLRGHNTNVGAIVFHPKSTVSLDPKDVNLASCAADGSVKLWSLDSDEPVADIE
GHTVRVARVMWHPSGRFLGTTCYDRSWRLWDLEAQEEILHQEGHSMGVYDIAFHQDGSLAGTGGLDAFGRVWDLRTGRCI
MFLEGHLKEIYGINFSPNGYHIATGSGDNTCKVWDLRQRRCVYTIPAHQNLVTGVKFEPIHGNFLLTGAYDNTAKIWTHP
GWSPLKTLAGHEGKVMGLDISSDGQLIATCSYDRTFKLWMAE*

Gene Symbol:PRPF4
Accession:NM_001244926
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASSRASSTATKTKAPDDLVAPVVKKPHIYYGSLEEKERERLAKGESGILGKDGLKAGIEAGNINITSGEVFEIEEHISE
RQAEVLAEFERRKRARQINVSTDDSEVKACLRALGEPITLFGEGPAERRERLRNILSVVGTDALKKTKKDDEKSKKSKEE
YQQTWYHEGPNSLKVARLWIANYSLPRAMKRLEEARLHKEIPETTRTSQMQELHKSLRSLNNFCSQIGDDRPISYCHFSP
NSKMLATACWSGLCKLWSVPDCNLLHTLRGHNTNVGAIVFHPKSTVSLDPKDVNLASCAADGSVKLWSLDSDEPVADIEG
HTVRVARVMWHPSGRFLGTTCYDRSWRLWDLEAQEEILHQEGHSMGVYDIAFHQDGSLAGTGGLDAFGRVWDLRTGRCIM
FLEGHLKEIYGINFSPNGYHIATGSGDNTCKVWDLRQRRCVYTIPAHQNLVTGVKFEPIHGNFLLTGAYDNTAKIWTHPG
WSPLKTLAGHEGKVMGLDISSDGQLIATCSYDRTFKLWMAE*

Gene Symbol:PRPF4
Accession:NM_001322267
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSFVFDRSGLCKLWSVPDCNLLHTLRGHNTNVGAIVFHPKSTVSLDPKDVNLASCAADGSVKLWSLDSDEPVADIEGHT
VRVARVMWHPSGRFLGTTCYDRSWRLWDLEAQEEILHQEGHSMGVYDIAFHQDGSLAGTGGLDAFGRVWDLRTGRCIMFL
EGHLKEIYGINFSPNGYHIATGSGDNTCKVWDLRQRRCVYTIPAHQNLVTGVKFEPIHGNFLLTGAYDNTAKIWTHPGWS
PLKTLAGHEGKVMGLDISSDGQLIATCSYDRTFKLWMAE*

Gene Symbol:PRPF4
Accession:NR_136265
Location:EXON;NON-CODING

Gene Symbol:PRPF4
Accession:NR_136266
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002164263 CLINVAR
dbSNP (RS) rs964021460 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PRPF4 CLINVAR
OMIM 607795 CLINVAR