RGD:15121772 Rat Genome Database

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Variant: RGD:15121772 -  Homo sapiens

RGD ID: 15121772
RS ID: rs144882196
ClinVar ID: CV735417
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENPP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 132,172,373
GRCh38 6 131,851,233
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006208.3:c.522C>T
NG_008206.1:g.48218C>T
NC_000006.12:g.131851233C>T
NC_000006.11:g.132172373C>T
More... 		06/26/2020 synonymous variant benign|likely benign|uncertain significance Idiopathic infantile arterial calcification; none provided; Occlusive infantile arteriopathy

Variant Details
Variant Transcripts
Gene Symbol:ENPP1
Accession:NM_006208
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERDGCAGGGSRGGEGGRAPREGPAGNGRDRGRSHAAEAPGDPQAAASLLAPMDVGEEPLEKAARARTAKDPNTYKVLSL
VLSVCVLTTILGCIFGLKPSCAKEVKSCKGRCFERTFGNCRCDAACVELGNCCLDYQETCIEPEHIWTCNKFRCGEKRLT
RSLCACSDDCKDKGDCCINYSSVCQGEKSWVEEPCESINEPQCPAGFETPPTLLFSLDGFRAEYLHTWGGLLPVISKLKK
CGTYTKNMRPVYPTKTFPNHYSIVTGLYPESHGIIDNKMYDPKMNASFSLKSKEKFNPEWYKGEPIWVTAKYQGLKSGTF
FWPGSDVEINGIFPDIYKMYNGSVPFEERILAVLQWLQLPKDERPHFYTLYLEEPDSSGHSYGPVSSEVIKALQRVDGMV
GMLMDGLKELNLHRCLNLILISDHGMEQGSCKKYIYLNKYLGDVKNIKVIYGPAARLRPSDVPDKYYSFNYEGIARNLSC
REPNQHFKPYLKHFLPKRLHFAKSDRIEPLTFYLDPQWQLALNPSERKYCGSGFHGSDNVFSNMQALFVGYGPGFKHGIE
ADTFENIEVYNLMCDLLNLTPAPNNGTHGSLNHLLKNPVYTPKHPKEVHPLVQCPFTRNPRDNLGCSCNPSILPIEDFQT
QFNLTVAEEKIIKHETLPYGRPRVLQKENTICLLSQHQFMSGYSQDILMPLWTSYTVDRNDSFSTEDFSNCLYQDFRIPL
SPVHKCSFYKNNTKVSYGFLSPPQLNKNSSGIYSEALLTTNIVPMYQSFQVIWRYFHDTLLRKYAEERNGVNVVSGPVFD
FDYDGRCDSLENLRQKRRVIRNQEILIPTHFFIVLTSCKDTSQTPLHCENLDTLAFILPHRTDNSESCVHGKHDSSWVEE
LLMLHRARITDVEHITGLSFYQQRKEPVSDILKLKTHLPTFSQED*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000896125 CLINVAR
  RCV001154593 CLINVAR
  RCV001154594 CLINVAR
  RCV003922867 CLINVAR
dbSNP (RS) rs144882196 CLINVAR
MedGen C2750078 CLINVAR
  C3661900 CLINVAR
  C4551985 CLINVAR
NCBI Gene ENPP1 CLINVAR
OMIM 173335 CLINVAR
  208000 CLINVAR
  613312 CLINVAR