RGD:40904081 Rat Genome Database

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Variant: RGD:40904081 -  Homo sapiens

RGD ID: 40904081
RS ID: rs2037448764
ClinVar ID: CV976566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHMT2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 57,627,810
GRCh38 12 57,234,027
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_029415.1:n.1312A>C
NP_001159828.1:p.Gln425Pro
NP_005403.2:p.Gln435Pro
NR_048562.1:n.1520A>C
More... 		12/11/2020 missense variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SHMT2
Accession:NM_001166356
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLYFSLFWAARPLQRCGQLVRMAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELLQREKDRQCRGLELIASENFC
SRAALEALGSCLNNKYSEGYPGKRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDR
IMGLDLPDGGHLTHGYMSDVKRISATSIFFESMPYKLNLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLA
DMAHISGLVAAKVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVFPSLQGGPHNH
AIAAVAVALKQACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKN
TCPGDRSAITPGGLRLGAPALTSRPFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVE
QFARAFPMPGFDEH*

Gene Symbol:SHMT2
Accession:NM_001166358
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELLQREKDRQCRGLELIASENFCSRAALEALGSCLNNKYSEGYP
GKRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDVK
RISATSIFFESMPYKLNPKTGLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLADMAHISGLVAA
KVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVFPSLQGGPHNHAIAAVAVALKQ
ACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAITP
GGLRLGAPALTSRPFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVEQFARAFPMPGF
DEH*

Gene Symbol:SHMT2
Accession:NM_005412
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 435
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLYFSLFWAARPLQRCGQLVRMAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELLQREKDRQCRGLELIASENFC
SRAALEALGSCLNNKYSEGYPGKRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDR
IMGLDLPDGGHLTHGYMSDVKRISATSIFFESMPYKLNPKTGLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREV
CDEVKAHLLADMAHISGLVAAKVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVF
PSLQGGPHNHAIAAVAVALKQACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVL
ELVSITANKNTCPGDRSAITPGGLRLGAPALTSRPFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQ
RLANLRQRVEQFARAFPMPGFDEH*

Gene Symbol:SHMT2
Accession:NM_001166357
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELLQREKDRQCRGLELIASENFCSRAALEALGSCLNNKYSEGYP
GKRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDVK
RISATSIFFESMPYKLNPKTGLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLADMAHISGLVAA
KVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVFPSLQGGPHNHAIAAVAVALKQ
ACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAITP
GGLRLGAPALTSRPFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVEQFARAFPMPGF
DEH*

Gene Symbol:SHMT2
Accession:XM_011538675
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 339
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEQRWWMKLSCCASAGPWKPLTWILHSGESMSSPTPGPQPTWPSTQPFCNLTTGSWGWTCPMGAISPTATCLTSSGYQP
RPSSSSLCPISSTALAVCVSVQPKTGLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLADMAHIS
GLVAAKVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVFPSLQGGPHNHAIAAVA
VALKQACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDR
SAITPGGLRLGAPALTSRPFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVEQFARAF
PMPGFDEH*

Gene Symbol:SHMT2
Accession:NM_001166359
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAIRAQHSNAAQTQTGEANRGWTGQESLSDSDPEMWELLQREKDRQCRGLELIASENFCSRAALEALGSCLNNKYSEGYP
GKRYYGGAEVVDEIELLCQRRALEAFDLDPAQWGVNVQPYSGSPANLAVYTALLQPHDRIMGLDLPDGGHLTHGYMSDVK
RISATSIFFESMPYKLNPKTGLIDYNQLALTARLFRPRLIIAGTSAYARLIDYARMREVCDEVKAHLLADMAHISGLVAA
KVIPSPFKHADIVTTTTHKTLRGARSGLIFYRKGVKAVDPKTGREIPYTFEDRINFAVFPSLQGGPHNHAIAAVAVALKQ
ACTPMFREYSLQVLKNARAMADALLERGYSLVSGGTDNHLVLVDLRPKGLDGARAERVLELVSITANKNTCPGDRSAITP
GGLRLGAPALTSRPFREDDFRRVVDFIDEGVNIGLEVKSKTAKLQDFKSFLLKDSETSQRLANLRQRVEQFARAFPMPGF
DEH*

Gene Symbol:SHMT2
Accession:NR_029417
Location:EXON;NON-CODING

Gene Symbol:SHMT2
Accession:NR_029416
Location:EXON;NON-CODING

Gene Symbol:SHMT2
Accession:NR_029415
Location:EXON;NON-CODING

Gene Symbol:SHMT2
Accession:NR_048562
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:33015733  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001270314 CLINVAR
dbSNP (RS) rs2037448764 CLINVAR
MedGen C5436848 CLINVAR
NCBI Gene SHMT2 CLINVAR
OMIM 138450 CLINVAR
  619121 CLINVAR
OMIM Allele 138450.0005 CLINVAR