RGD:38476968 Rat Genome Database

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Variant: RGD:38476968 -  Homo sapiens

RGD ID: 38476968
RS ID: rs1749197881
ClinVar ID: CV924121
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DHFR  LOC127403256  MSH3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 79,950,688
GRCh38 5 80,654,869
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000791.4:c.-380C>T
NM_001290357.2:c.-380C>T
NM_001290354.2:c.-486C>T
NM_002439.5:c.142G>A
More... 		05/16/2019 5 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:DHFR
Accession:NM_000791
Location:5UTRS;EXON

Gene Symbol:DHFR
Accession:NM_001290357
Location:5UTRS;EXON

Gene Symbol:DHFR
Accession:NM_001290354
Location:5UTRS;EXON

Gene Symbol:MSH3
Accession:NM_002439
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRRKPASGGLAASSSAPARQAVLSRFFQSTGSLKSTSSSTGAADQVNPGAAAAAAAAAAAAPPAPPAPAFPPQLPPHIA
TEIDRRKKRPLENDGPVKKKVKKVQQKEGGSDLGMSGNSEPKKCLRTRNVSKSLEKLKEFCCDSALPQSRVQTESLQERF
AVLPKCTDFDDISLLHAKNAVSSEDSKRQINQKDTTLFDLSQFGSSNTSHENLQKTASKSANKRSKSIYTPLELQYIEMK
QQHKDAVLCVECGYKYRFFGEDAEIAARELNIYCHLDHNFMTASIPTHRLFVHVRRLVAKGYKVGVVKQTETAALKAIGD
NRSSLFSRKLTALYTKSTLIGEDVNPLIKLDDAVNVDEIMTDTSTSYLLCISENKENVRDKKKGNIFIGIVGVQPATGEV
VFDSFQDSASRSELETRMSSLQPVELLLPSALSEQTEALIHRATSVSVQDDRIRVERMDNIYFEYSHAFQAVTEFYAKDT
VDIKGSQIISGIVNLEKPVICSLAAIIKYLKEFNLEKMLSKPENFKQLSSKMEFMTINGTTLRNLEILQNQTDMKTKGSL
LWVLDHTKTSFGRRKLKKWVTQPLLKLREINARLDAVSEVLHSESSVFGQIENHLRKLPDIERGLCSIYHKKCSTQEFFL
IVKTLYHLKSEFQAIIPAVNSHIQSDLLRTVILEIPELLSPVEHYLKILNEQAAKVGDKTELFKDLSDFPLIKKRKDEIQ
GVIDEIRMHLQEIRKILKNPSAQYVTVSGQEFMIEIKNSAVSCIPTDWVKVGSTKAVSRFHSPFIVENYRHLNQLREQLV
LDCSAEWLDFLEKFSEHYHSLCKAVHHLATVDCIFSLAKVAKQGDYCRPTVQEERKIVIKNGRHPVIDVLLGEQDQYVPN
NTDLSEDSERVMIITGPNMGGKSSYIKQVALITIMAQIGSYVPAEEATIGIVDGIFTRMGAADNIYKGQSTFMEELTDTA
EIIRKATSQSLVILDELGRGTSTHDGIAIAYATLEYFIRDVKSLTLFVTHYPPVCELEKNYSHQVGNYHMGFLVSEDESK
LDPGAAEQVPDFVTFLYQITRGIAARSYGLNVAKLADVPGEILKKAAHKSKELEGLINTKRKRLKYFAKLWTMHNAQDLQ
KWTEEFNMEETQTSLLH*

Gene Symbol:DHFR
Accession:NR_110936
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001215915 CLINVAR
dbSNP (RS) rs1749197881 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DHFR CLINVAR
  MSH3 CLINVAR
OMIM 126060 CLINVAR
  600887 CLINVAR