rs149449772 Rat Genome Database

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Variant: rs149449772 -  Homo sapiens

RGD ID: 151800059
RS ID: rs149449772
ClinVar ID: CV1426481
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRDM12  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 133,540,167
GRCh38 9 130,664,780
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021619.3:c.127A>G
NG_053081.1:g.5187A>G
NC_000009.12:g.130664780A>G
NC_000009.11:g.133540167A>G
More... 		02/01/2024 missense variant uncertain significance HSAN VIII; Neuropathy, hereditary sensory and autonomic, type VIII; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRDM12
Accession:NM_021619
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMGSVLPAEALVLKTGLKAPGLALAEVITSDILHSFLYGRWRDVLGEQLFEDKSHHASPKTAFTAEVLAQSFSGEVQKLS
SLVLPAEVIIAQSSIPGEGLGIFSKTWIKAGTEMGPFTGRVIAPEHVDICKNNNLMWEVFNEDGTVRYFIDASQEDHRSW
MTYIKCARNEQEQNLEVVQIGTSIFYKAIEMIPPDQELLVWYGNSHNTFLGIPGVPGLEEDQKKNKHEDFHPADSAAGPA
GRMRCVICHRGFNSRSNLRSHMRIHTLDKPFVCRFCNRRFSQSSTLRNHVRLHTGERPYKCQVCQSAYSQLAGLRAHQKS
ARHRPPSTALQAHSPALPAPHAHAPALAAAAAAAAAAAAHHLPAMVL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001990867 CLINVAR
  RCV002370647 CLINVAR
  RCV003883732 CLINVAR
dbSNP (RS) rs149449772 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
  C4225308 CLINVAR
NCBI Gene PRDM12 CLINVAR
OMIM 616458 CLINVAR
  616488 CLINVAR