rs369850639 Rat Genome Database

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Variant: rs369850639 -  Homo sapiens

RGD ID: 15169411
RS ID: rs369850639
ClinVar ID: CV751445
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRDM12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 133,543,565
GRCh38 9 130,668,178
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.435G>A
NG_053081.1:g.8585G>A
NC_000009.12:g.130668178G>A
NC_000009.11:g.133543565G>A
More... 		11/18/2021 synonymous variant likely benign HSAN VIII; Neuropathy, hereditary sensory and autonomic, type VIII
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRDM12
Accession:NM_021619
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMGSVLPAEALVLKTGLKAPGLALAEVITSDILHSFLYGRWRNVLGEQLFEDKSHHASPKTAFTAEVLAQSFSGEVQKLS
SLVLPAEVIIAQSSIPGEGLGIFSKTWIKAGTEMGPFTGRVIAPEHVDICKNNNLMWEVFNEDGTVRYFIDASQEDHRSW
MTYIKCARNEQEQNLEVVQIGTSIFYKAIEMIPPDQELLVWYGNSHNTFLGIPGVPGLEEDQKKNKHEDFHPADSAAGPA
GRMRCVICHRGFNSRSNLRSHMRIHTLDKPFVCRFCNRRFSQSSTLRNHVRLHTGERPYKCQVCQSAYSQLAGLRAHQKS
ARHRPPSTALQAHSPALPAPHAHAPALAAAAAAAAAAAAHHLPAMVL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002066065 CLINVAR
dbSNP (RS) rs369850639 CLINVAR
MedGen C4225308 CLINVAR
NCBI Gene PRDM12 CLINVAR
OMIM 616458 CLINVAR
  616488 CLINVAR