RGD:401877912 Rat Genome Database

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Variant: RGD:401877912 -  Homo sapiens

RGD ID: 401877912
ClinVar ID: CV2786857
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNRNP70  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 49,611,650
GRCh38 19 49,108,393
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001301069.2:c.1237G>A
NM_003089.6:c.1264G>A
NC_000019.10:g.49108393G>A
NC_000019.9:g.49611650G>A
More... 		09/13/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SNRNP70
Accession:NM_001301069
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 413
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQFLPPNLLALFAPRDPIPYLPPLEKLPHEKHHNQPYCGIAPYIREFEDPRDAPPPTRAETREERMERKRREKIERRQQ
EVETELKMWDPHNDPNAQGDAFKTLFVARVNYDTTESKLRREFEVYGPIKRIHMVYSKRSGKPRGYAFIEYEHERDMHSA
YKHADGKKIDGRRVLVDVERGRTVKGWRPRRLGGGLGGTRRGGADVNIRHSGRDDTSRYDERDRDRDRERERRERSRERD
KERERRRSRSRDRRRRSRSRDKEERRRSRERSKDKDRDRKRRSSRSRERARRERERKEELRGGGGDMAEPSEAGDAPPDD
GPPGELGPDGPDGPEEKGRDRDRERRRSHRSERERRRDRDRDRDRDREHKRGERGSERGRDEARGGGGGQDNGLEGLGND
SRDMYMESEGGDSYLAPENGYLMEAAPE*

Gene Symbol:SNRNP70
Accession:NM_003089
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 422
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQFLPPNLLALFAPRDPIPYLPPLEKLPHEKHHNQPYCGIAPYIREFEDPRDAPPPTRAETREERMERKRREKIERRQQ
EVETELKMWDPHNDPNAQGDAFKTLFVARVNYDTTESKLRREFEVYGPIKRIHMVYSKRSGKPRGYAFIEYEHERDMHSA
YKHADGKKIDGRRVLVDVERGRTVKGWRPRRLGGGLGGTRRGGADVNIRHSGRDDTSRYDERPGPSPLPHRDRDRDRERE
RRERSRERDKERERRRSRSRDRRRRSRSRDKEERRRSRERSKDKDRDRKRRSSRSRERARRERERKEELRGGGGDMAEPS
EAGDAPPDDGPPGELGPDGPDGPEEKGRDRDRERRRSHRSERERRRDRDRDRDRDREHKRGERGSERGRDEARGGGGGQD
NGLEGLGNDSRDMYMESEGGDSYLAPENGYLMEAAPE*

Gene Symbol:SNRNP70
Accession:XM_011527241
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEPSEAGDAPPDDGPPGELGPDGPDGPEEKGRDRDRERRRSHRSERERRRDRDRDRDRDREHKRGERGSERGRDEARGG
GGGQDNGLEGLGNDSRDMYMESEGGDSYLAPENGYLMEAAPE*

Gene Symbol:SNRNP70
Accession:XM_011527240
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 330
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQTLGSRSKMRSNDCWWLVESRGWQTTDLKFSCCSARQIHMVYSKRSGKPRGYAFIEYEHERDMHSAYKHADGKKIDGR
RVLVDVERGRTVKGWRPRRLGGGLGGTRRGGADVNIRHSGRDDTSRYDERPGPSPLPHRDRDRDRERERRERSRERDKER
ERRRSRSRDRRRRSRSRDKEERRRSRERSKDKDRDRKRRSSRSRERARRERERKEELRGGGGDMAEPSEAGDAPPDDGPP
GELGPDGPDGPEEKGRDRDRERRRSHRSERERRRDRDRDRDRDREHKRGERGSERGRDEARGGGGGQDNGLEGLGNDSRD
MYMESEGGDSYLAPENGYLMEAAPE*

Gene Symbol:SNRNP70
Accession:XM_047439252
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEPSEAGDAPPDDGPPGELGPDGPDGPEEKGRDRDRERRRSHRSERERRRDRDRDRDRDREHKRGERGSERGRDEARGG
GGGQDNGLEGLGNDSRDMYMESEGGDSYLAPENGYLMEAAPE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004366011 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SNRNP70 CLINVAR
OMIM 180740 CLINVAR