RGD:156354414 Rat Genome Database

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Variant: RGD:156354414 -  Homo sapiens

RGD ID: 156354414
ClinVar ID: CV1894636
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SAMHD1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 35,526,899
GRCh38 20 36,898,496
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_281t1:c.1552G>A
NM_001363729.2:c.1504-537G>A
NM_001363733.2:c.1552G>A
NM_015474.4:c.1552G>A
More... 		12/19/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SAMHD1
Accession:NM_015474
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 518
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKTWGPEQVCSFLRRGGFEEPVLLKNIRENEITGALLPC
LDESRFENLGVSSLGERKKLLSYIQRLVQIHVDTMKVINDPIHGHIELHPLLVRIIDTPQFQRLRYIKQLGGGYYVFPGA
SHNRFEHSLGVGYLAGCLVHALGEKQPELQISERDVLCVQIAGLCHDLGHGPFSHMFDGRFIPLARPEVKWTHEQGSVMM
FEHLINSNGIKPVMEQYGLIPEEDICFIKEQIVGPLESPVEDSLWPYKGRPENKSFLYEIVSNKRNGIDVDKWDYFARDC
HHLGIQNNFDYKRFIKFARVCEVDNELRICARDKEVGNLYDMFHTRNSLHRRAYQHKVGNIIDTMITDAFLKADDYIEIT
GAGGKKYRISTAIDDMEAYTKLTDNIFLEILYSTDPKLKDAREILKQIEYRNLFKYVGETQPTGQIKIKREDYESLPKEV
ASAKPKVLLDVKLKAEDFIVDVINMDYGMQEKNPIDHISFYCKTAPNRAIRITKNQVSQLLPEKFAEQLIRVYCKKVDRK
SLYAARQYFVQWCADRNFTKPQDGDVIAPLITPQKKEWNDSTSVQNPTRLREASKSRVQLFKDDPM*

Gene Symbol:SAMHD1
Accession:NM_001363733
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 518
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRADSEQPSKRPRCDDSPRTPSNTPSAEADWSPGLELHPDYKTWGPEQVCSFLRRGGFEEPVLLKNIRENEITGALLPC
LDESRFENLGVSSLGERKKLLSYIQRLVQIHVDTMKVINDPIHGHIELHPLLVRIIDTPQFQRLRYIKQLGGGYYVFPGA
SHNRFEHSLGVGYLAGCLVHALGEKQPELQISERDVLCVQIAGLCHDLGHGPFSHMFDGRFIPLARPEVKWTHEQGSVMM
FEHLINSNGIKPVMEQYGLIPEEDICFIKEQIVGPLESPVEDSLWPYKGRPENKSFLYEIVSNKRNGIDVDKWDYFARDC
HHLGIQNNFDYKRFIKFARVCEVDNELRICARDKEVGNLYDMFHTRNSLHRRAYQHKVGNIIDTMITDAFLKADDYIEIT
GAGGKKYRISTAIDDMEAYTKLTDNIFLEILYSTDPKLKDAREILKQIEYRNLFKYVGETQPTGQIKIKREDYESLPKEV
ASAKPKVLLDVKLKAEDFIVDVINMDYGMQEKNPIDHISFYCKTAPNRAIRITKNQVSQLLPEKFAEQLIRVYCKKVDRK
SLYAARQYFVQWCADRNFTKPQSPTRASH*

Gene Symbol:SAMHD1
Accession:NM_001363729
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003091231 CLINVAR
MedGen C2749659 CLINVAR
NCBI Gene SAMHD1 CLINVAR
OMIM 606754 CLINVAR
  612952 CLINVAR