rs754277042 Rat Genome Database

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Variant: rs754277042 -  Homo sapiens

RGD ID: 13488977
RS ID: rs754277042
ClinVar ID: CV458899
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130002813  PRDM12  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 133,556,663
GRCh38 9 130,681,276
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_053081.1:g.21683T>G
NC_000009.12:g.130681276T>G
NC_000009.11:g.133556663T>G
NP_067632.2:p.Ala237=
More... 		10/07/2022 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: A to A (synonymous)
Amino Acid Position: 237
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 RCV000532669 CLINVAR
  RCV002367955 CLINVAR
dbSNP (RS) rs754277042 CLINVAR
MedGen C0950123 CLINVAR
  C4225308 CLINVAR
NCBI Gene LOC130002813 CLINVAR
  PRDM12 CLINVAR
OMIM 616458 CLINVAR
  616488 CLINVAR